Information on EC 1.3.1.21 - 7-dehydrocholesterol reductase

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The expected taxonomic range for this enzyme is: Eukaryota

EC NUMBER
COMMENTARY
1.3.1.21
-
RECOMMENDED NAME
GeneOntology No.
7-dehydrocholesterol reductase
REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
cholesterol + NADP+ = cholesta-5,7-dien-3beta-ol + NADPH + H+
show the reaction diagram
; cholesta-5,7-dien-3beta-ol is 7-dehydrocholesterol
-
-
-
cholesterol + NADP+ = cholesta-5,7-dien-3beta-ol + NADPH + H+
show the reaction diagram
carbocationic intermediate, mechanism
-
cholesterol + NADP+ = cholesta-5,7-dien-3beta-ol + NADPH + H+
show the reaction diagram
mechanism
-
REACTION TYPE
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
oxidation
-
-
-
-
redox reaction
-
-
-
-
reduction
-
-
-
-
PATHWAY
KEGG Link
MetaCyc Link
Biosynthesis of secondary metabolites
-
cholesterol biosynthesis I
-
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
-
cholesterol biosynthesis III (via desmosterol)
-
ecdysone and 20-hydroxyecdysone biosynthesis
-
Metabolic pathways
-
plant sterol biosynthesis
-
Steroid biosynthesis
-
SYSTEMATIC NAME
IUBMB Comments
cholesterol:NADP+ DELTA7-oxidoreductase
In mammals the enzyme is part of the cholesterol biosynthesis pathway [2] and catalyses the reduction reaction. In the nematode Caenorhabditis elegans the enzyme catalyses the oxidation reaction as part of the biosynthesis of dafachronic acids that are important for control of developmental timing and longevity [3,4].
SYNONYMS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
3-hydroxysterol DELTA7-reductase
-
-
3beta-hydroxysterol DELTA7-reductase
-
-
3beta-hydroxysterol-DELTA7-reductase
-
-
7-dehydrocholesterol DELTA7 reductase
-
-
7-dehydrocholesterol DELTA7-reductase
-
-
7-DHC reductase
-
-
-
-
7-DHCR
-
-
DELTA5,7-sterol DELTA7-reductase
-
-
Dhcr7
Q9UBM7
-
Dhcr7
Q88455
-
Dhcr7
Q9E2H5
-
Dhcr7-AS-1
Q9Z2Z8
-
Dhcr7-AS-2
Q9Z2Z8
-
Dhcr7-AS-4
Q9Z2Z8
-
Dwarf5 protein
-
-
-
-
Neverland
Q1JUZ2
-
Nvd
Q1JUZ2
-
reductase, 7-dehydrocholesterol
-
-
-
-
Sterol delta-7-reductase
-
-
-
-
sterol DELTA7 reductase
A4F244
-
sterol DELTA7 reductase
Mortierella alpina 1S-4
A4F244
-
-
sterol DELTA7-reductase
-
-
sterol DELTA7-reductase
-
-
sterol DELTA7-reductase
-
-
CAS REGISTRY NUMBER
COMMENTARY
9080-21-1
-
ORGANISM
COMMENTARY
LITERATURE
SEQUENCE CODE
SEQUENCE DB
SOURCE
enzyme Dhcr7, gene dhcr7
SwissProt
Manually annotated by BRENDA team
enzyme Dhcr7, no additional isoforms, no alternative splicing
SwissProt
Manually annotated by BRENDA team
expression in Caenorhabditis elegans
-
-
Manually annotated by BRENDA team
gene DHCR7
-
-
Manually annotated by BRENDA team
gene dhcr7, enzyme DHCR7
-
-
Manually annotated by BRENDA team
patient with Smith-Lemli-Opitz syndrome
SwissProt
Manually annotated by BRENDA team
patients with Smith-Lemli-Opitz syndrome
-
-
Manually annotated by BRENDA team
strain 1S-4
SwissProt
Manually annotated by BRENDA team
Mortierella alpina 1S-4
strain 1S-4
SwissProt
Manually annotated by BRENDA team
3 isozymes of enzyme Dhcr7 through alternative splicing of gene Dhcr7
SwissProt
Manually annotated by BRENDA team
alternatively spliced variant 1, i.e. Dhcr7-AS-1; 5 isozymes of enzyme Dhcr7 through alternative splicing of gene Dhcr7; alternatively spliced variant 2, i.e. Dhcr7-AS-2; 5 isozymes of enzyme Dhcr7 through alternative splicing of gene Dhcr7; alternatively spliced variant 4, i.e. Dhcr7-AS-4; 5 isozymes of enzyme Dhcr7 through alternative splicing of gene Dhcr7
SwissProt
Manually annotated by BRENDA team
full-length gene, genomic DNA; 5 isozymes of enzyme Dhcr7 through alternative splicing of gene Dhcr7, i.e. splicing variants Dhcr7-AS-1-5
SwissProt
Manually annotated by BRENDA team
large isoform Xdhcr7-L
-
-
Manually annotated by BRENDA team
maize
-
-
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
physiological function
-
quantitative proteomics analysis of Smith-Lemli-Opitz syndrome and lathosterolosis mouse brain tissue shows that multiple biological pathways are affected affected in Dhcr7-deficient and lathosterol 5-desaturase-deficient E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Deficiency leads to increased expression of isoprenoid and cholesterol synthetic enzymes, possibly due to the altered posttranslational modification of Rab7, a small GTPase
physiological function
-
Dhcr7 inhibits hedgehog signaling in a Smo-independent manner, overview
physiological function
-
by controlling dafachronic acid production, enzyme DAF-36 regulates activities of nuclear receptor DAF-12 for reproductive development and longevity. Mutants deficient for the enzyme lack 7-dehydrocholesterol, revealing a 6.5fold decrease relative to wild-type, and accumulate the putative precursor, cholesterol, by 3fold. The ligand of nuclear receptor DAF-12, DELTA7-dafachronic acid, is also undetectable in the mutants, while DELTA4-dafachronic acid is below the detection limit in both wild-type and mutant
physiological function
Q1JUZ2
wild-type Bombyx mori enzyme rescues the lethality of Drosophila melanogaster animals treated with RNAi against the nvd gene, whereas Bombyx mori mutants H190A and H282A do not
physiological function
-
construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14
physiological function
-
microsomes from the livers of mice in which hepatic cytochrome P450 reductase expression is extinguished during maturation contain negligible levels of NADPH-cytochrome P450 reductase but have 2.5fold greater DHCR7 activity than microsomes from wild-type mice. DHCR7 protein levels are elevated twofold in NADPH-cytochrome P450 reductase-null microsomes. Addition of NADPH-cytochrome P450 reductase to these microsomes provides no stimulation of DHCR7 activity
physiological function
I7ML19, -
a knock out strain shows no differences in growth rates nor cell shape, neither in the presence nor in the absence of added sterols.Sterols found in wild-type are 83.44% cholesta-5,7,22-trien-3beta-ol as the major derivative, besides cholesterol itself, 0.55% cholesta-5,7-dien-3beta-ol and 3.84% cholesta-5,22-dien-3beta-ol. In contrast, in the KODES7 cell line, the only conversion product recovered is 92.76% 22-dehydrocholesterol
additional information
-
dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol
SUBSTRATE
PRODUCT                      
REACTION DIAGRAM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
(Substrate)
LITERATURE
(Substrate)
COMMENTARY
(Product)
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
7-dehydrodesmosterol + NADPH
desmosterol + NADP+
show the reaction diagram
-
-
-
-
?
7-dehydrodesmosterol + NADPH
desmosterol + NADP+
show the reaction diagram
A4F244, -
-
desmosterol is cholesta-5,24-dienol
-
?
7-dehydrodesmosterol + NADPH
desmosterol + NADP+
show the reaction diagram
-
terminal step in desmosterol de novo biosynthesis, pathway and physiological role, overview
-
-
?
7-dehydrodesmosterol + NADPH
desmosterol + NADP+
show the reaction diagram
Mortierella alpina 1S-4
A4F244
-
desmosterol is cholesta-5,24-dienol
-
?
7-dehydrositosterol + NADPH
sitosterol + NADP+
show the reaction diagram
-
25% of that with 7-dehydrocholesterol
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9LDU6
highly regiospecific for DELTA7-bond reduction, but wide substrate specificity
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
defect in cholesterol biosynthesis cause multiple congenital, developmental and morphogenic anomalies, e.g. the Smith-Lemli-Opitz syndrome due to a gene mutation, overview
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
defect in cholesterol biosynthesis cause multiple congenital, developmental and morphogenic anomalies, e.g. the Smith-Lemli-Opitz syndrome due to a gene mutation, overview
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol formation outside myelin sheath
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
reversibility of the reaction in vivo could not be proofen
-
?
cholesta-5,7-dien-3alpha-ol + NADPH
epicholesterol + NADP+
show the reaction diagram
-
i.e. 7-dehydroepicholesterol, 25% activity of that with 7-dehydrocholesterol
-
-
-
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
A4F244, -
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
wide substrate spectrum
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9LDU6
wide substrate spectrum
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
wide substrate spectrum
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
isotope effects
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9E2H5, Q9Z2Z8
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9UBM7
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q88455
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
final step in cholesterol biosynthesis
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-, Q9UBM7
last step in cholesterol biosynthesis
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
terminal step in cholesterol de novo biosynthesis, pathway and physiological role, overview
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
terminal step in cholesterol de novo biosynthesis, physiological role, overview
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9E2H5, Q9Z2Z8
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-, Q9UBM7
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9UBM7
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q88455
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Mortierella alpina 1S-4
A4F244
-
-
-
?
cholesta-7-en-3beta-ol + NADPH
?
show the reaction diagram
-
low activity
-
-
?
cholesta-7-en-3beta-ol + NADPH
?
show the reaction diagram
-
not:
-
-
-
cholesta-7-en-3beta-ol + NADPH
?
show the reaction diagram
-
i.e. lathosterol
-
-
?
cholesta-7-en-3beta-ol + NADPH
?
show the reaction diagram
-
i.e. lathosterol
-
-
?
cholesterol + NADP+
cholesta-5,7-dien-3-beta-ol + NADPH + H+
show the reaction diagram
-
-
-
-
?
cholesterol + NADP+
cholesta-5,7-dien-3-beta-ol + NADPH + H+
show the reaction diagram
I7ML19, -
-
-
-
?
cholesterol + NADP+
cholesta-5,7-dien-3-beta-ol + NADPH + H+
show the reaction diagram
Q1JUZ2
-
-
-
?
cholesterol + NADP+
cholesta-5,7-dien-3-beta-ol + NADPH + H+
show the reaction diagram
Q17938
first committed step in biosynthesis of Caenorhabditis elegans bile acid-like steroids called dafachronic acids
-
-
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
25% activity of that with 7-dehydrocholesterol
-
-
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
i.e. ergosterol
-
-
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
i.e. ergosterol
-
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
i.e. ergosterol
-
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
Q9LDU6
i.e. ergosterol
-
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
i.e. ergosterol
-
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
i.e. ergosterol
i.e. brassicasterol
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
i.e. ergosterol
i.e. brassicasterol
?
ergosta-5,7,22-trien-3beta-ol + NADPH
ergosta-5,22-diene-3beta-ol + NADP+
show the reaction diagram
-
enzyme activity diet-inducible: 2.6fold by 0.5% ergosterol and 5fold by 5.0% cholestyramine and 0.1% lovastatin
-
-
?
ergosta-5,7-diene-3beta-ol + NADPH
ergosta-5-eneol + NADP+
show the reaction diagram
Q9LDU6
-
-
?
ergosta-5,7-diene-3beta-ol + NADPH
ergosta-5-ene-3beta-ol + NADP+
show the reaction diagram
-
-
-
?
ergosta-5,7-diene-3beta-ol + NADPH
ergosta-5-ene-3beta-ol + NADP+
show the reaction diagram
Q9LDU6
also ergosta-5,24(28)-, ergosta-5,22,24(28)-eneols and cholesta-5,24- or cholesta-5,22,24-eneols can be formed in vivo in the mutants of Saccharomyces cerevisiae
-
?
ergosta-5,7-dienol + NADPH
ergosta-5-enol + NADP+
show the reaction diagram
A4F244, -
-
-
-
?
ergosta-5,7-dienol + NADPH
ergosta-5-enol + NADP+
show the reaction diagram
Mortierella alpina 1S-4
A4F244
-
-
-
?
additional information
?
-
-
a mutational enzyme defect causes the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, with low cholesterol and high precurosor 7-hydrocholesterol contents in plasma and tissues, clinical symptoms, overview
-
-
-
additional information
?
-
-
enzyme is essential for steroidogenesis, enzyme is not regulated by the luteinizing hormone LH
-
-
-
additional information
?
-
Q88455
enzyme is regulated through tissue-specific transcription and differential alternative splicing
-
-
-
additional information
?
-
Q9E2H5, Q9Z2Z8
enzyme is regulated through tissue-specific transcription and differential alternative splicing, enzyme is induced when sterols are depleted both in vivo and in vitro
-
-
-
additional information
?
-
-
over 92% reduced enzyme activity, due to autosomal recessive mutational disorder, leads to the Smith-Lemli-Opitz syndrome in multiple cell types
-
-
-
additional information
?
-
-, Q9UBM7
reduced enzyme activity due to mutation leads to holoprosencephaly in vivo, phenotype
-
-
-
additional information
?
-
-
several enzyme mutational defects cause the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital malformations and mental retardation, or desmosterolosis and lathosterolosis, rare autosomal recessive disorders, defect cholesterol synthesis, clinical symptoms, overview
-
-
-
NATURAL SUBSTRATES
NATURAL PRODUCTS
REACTION DIAGRAM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
(Substrate)
LITERATURE
(Substrate)
COMMENTARY
(Product)
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
7-dehydrodesmosterol + NADPH
desmosterol + NADP+
show the reaction diagram
-
-
-
-
?
7-dehydrodesmosterol + NADPH
desmosterol + NADP+
show the reaction diagram
-
terminal step in desmosterol de novo biosynthesis, pathway and physiological role, overview
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9LDU6
highly regiospecific for DELTA7-bond reduction, but wide substrate specificity
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
defect in cholesterol biosynthesis cause multiple congenital, developmental and morphogenic anomalies, e.g. the Smith-Lemli-Opitz syndrome due to a gene mutation, overview
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
defect in cholesterol biosynthesis cause multiple congenital, developmental and morphogenic anomalies, e.g. the Smith-Lemli-Opitz syndrome due to a gene mutation, overview
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol formation outside myelin sheath
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
cholesterol biosynthesis
-
?
cholesta-5,7-dien-3-beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
reversibility of the reaction in vivo could not be proofen
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
-
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9E2H5, Q9Z2Z8
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q9UBM7
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
Q88455
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
final step in cholesterol biosynthesis
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-, Q9UBM7
last step in cholesterol biosynthesis
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
terminal step in cholesterol de novo biosynthesis, pathway and physiological role, overview
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
show the reaction diagram
-
terminal step in cholesterol de novo biosynthesis, physiological role, overview
-
-
?
cholesterol + NADP+
cholesta-5,7-dien-3-beta-ol + NADPH + H+
show the reaction diagram
Q17938
first committed step in biosynthesis of Caenorhabditis elegans bile acid-like steroids called dafachronic acids
-
-
?
ergosta-5,7-diene-3beta-ol + NADPH
ergosta-5-ene-3beta-ol + NADP+
show the reaction diagram
-
-
-
?
ergosta-5,7-diene-3beta-ol + NADPH
ergosta-5-ene-3beta-ol + NADP+
show the reaction diagram
Q9LDU6
also ergosta-5,24(28)-, ergosta-5,22,24(28)-eneols and cholesta-5,24- or cholesta-5,22,24-eneols can be formed in vivo in the mutants of Saccharomyces cerevisiae
-
?
additional information
?
-
-
a mutational enzyme defect causes the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, with low cholesterol and high precurosor 7-hydrocholesterol contents in plasma and tissues, clinical symptoms, overview
-
-
-
additional information
?
-
-
enzyme is essential for steroidogenesis, enzyme is not regulated by the luteinizing hormone LH
-
-
-
additional information
?
-
Q88455
enzyme is regulated through tissue-specific transcription and differential alternative splicing
-
-
-
additional information
?
-
Q9E2H5, Q9Z2Z8
enzyme is regulated through tissue-specific transcription and differential alternative splicing, enzyme is induced when sterols are depleted both in vivo and in vitro
-
-
-
additional information
?
-
-
over 92% reduced enzyme activity, due to autosomal recessive mutational disorder, leads to the Smith-Lemli-Opitz syndrome in multiple cell types
-
-
-
additional information
?
-
-, Q9UBM7
reduced enzyme activity due to mutation leads to holoprosencephaly in vivo, phenotype
-
-
-
additional information
?
-
-
several enzyme mutational defects cause the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital malformations and mental retardation, or desmosterolosis and lathosterolosis, rare autosomal recessive disorders, defect cholesterol synthesis, clinical symptoms, overview
-
-
-
COFACTOR
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
NADH
-
low activity
NADPH
Q9LDU6
no activity with NADH
NADPH
-
strictly dependent on
METALS and IONS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
Iron
-
iron-dependent
INHIBITORS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
1,4-bis-[2-chlorobenzylaminomethyl]-cyclohexane
-
AY-9944
1-[p-(beta-Diethylaminoethoxy) phenyl]1-(p-tolyl)-2-(p-chlorophenyl)ethanol
-
i.e. MER-29 or triparanol
2-[2-(4-chlorophenyl)ethyl]-6-hydroxy-7-methoxy-1,2,3,4-tetrahydroisoquinoline
-
strong and selective inhibition of 7-dehydrocholesterol reductase, stronger inhibition of overall cholesterol biosynthesis than BM 15.766, presently the most selective known inhibitor of 7-DHCR
20,25-Diazacholesterol
-
-
3beta-[2-(diethylamino)ethoxy]androst-5-en-17-one
-
i.e. U18666A
4-(2-[1-(n-chlorocinnamyl) piperazin-4-yl] ethyl) benzoic acid
-
-
4-(2-[1-(n-chlorocinnamyl) piperazin-4-yl] ethyl) benzoic acid
-
-
4-(2-[1-(n-chlorocinnamyl) piperazin-4-yl] ethyl) benzoic acid
-
i.e. BM 15.766 non-competitive
6,7-diaza-5alpha-cholest-8(14)-en-3beta-ol
-
-
6,7-diaza-5beta-cholest-8(14)-en-3beta-ol
-
-
6-aza-B-homo-5alpha-cholest-7-en-3beta-ol
-
-
6-aza-B-homo-5alpha-cholest-8-en-3beta-ol
-
-
7-dehydrocholesterol
-
depending on age of rats
7-dehydrocholesterol
-
more than 1.1 mM
8beta-cyano-6,7-diaza-5alpha-cholest-5,8(14)-dien-3beta-ol
-
-
-
AY9944
-
noncompetitive, specific inhibitor
AY9944
-
i.e. AY9944, competitive inhibitor of DHCR7 enzyme activity and inductor of DHCR7 expression. It blocks hedgehog signaling upstream of the Gli transcription factors, overview
BM 15.766
-
-
BM15.766
-
noncompetitive, specific inhibitor
brassicasterol
-
higher concentration, competitive
cholest-5,7-dien-3beta-ol
-
-
epicholesterol
-
higher concentration, competitive
N-(1,5,9-trimethyldecyl-)-4alpha,10-dimethyl-8-aza-trans-decalin-3beta-ol
-
-
-
sitosterol
-
higher concentration, competitive
trans-1,4-Bis-(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride
-
i.e. AY-9944, hypercholesterolaemic drug
trans-1,4-Bis-(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride
-
i.e. AY-9944, hypercholesterolaemic drug
trans-1,4-Bis-(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride
-
i.e. AY-9944, hypercholesterolaemic drug; non-competitive
ergosterol
-
non-competetively, concentration 0.025 mM
additional information
-
feed-back inhibition through 3-hydroxy-3-methylglutaryl-CoA reductase
-
additional information
-
in enzyme deficiency, accumulated 7-dehydrocholesterol suppresses sterol biosynthesis in vivo
-
additional information
-
analysis of physiological effects of immunoneutralization of the enzyme in Leydig cells
-
ACTIVATING COMPOUND
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
Sterol carrier protein
-
from cytosol, required for activity, probably identical with lipid transfer protein
sterol regulatory element-binding protein cleavage-activating protein
-
-
-
Tween 80
-
can substitute carrier protein
Lipid transfer protein
-
cytosolic, activity enhancement which is inhibited by addition of Tween 80, probably identical with sterol carrier protein
-
additional information
Q9E2H5, Q9Z2Z8
enzyme is induced when sterols are depleted both in vivo and in vitro
-
KM VALUE [mM]
KM VALUE [mM] Maximum
SUBSTRATE
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
1.14
-
7-dehydrocholesterol
-
-
1.14
-
7-dehydrocholesterol
-
-
0.21
-
ergosterol
-
-
Ki VALUE [mM]
Ki VALUE [mM] Maximum
INHIBITOR
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
0.0014
-
20,25-Diazacholesterol
-
-
5e-05
-
6,7-diaza-5alpha-cholest-8(14)-en-3beta-ol
-
-
7e-05
-
6-aza-B-homo-5alpha-cholest-7-en-3beta-ol
-
-
0.5
-
cholest-5,7-dien-3beta-ol
-
-
0.000109
-
trans-1,4-Bis-(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride
-
-
0.00016
0.00024
trans-1,4-Bis-(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride
-
-
0.047
0.083
Triparanol
-
-
IC50 VALUE [mM]
IC50 VALUE [mM] Maximum
INHIBITOR
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
0.0005
-
2-[2-(4-chlorophenyl)ethyl]-6-hydroxy-7-methoxy-1,2,3,4-tetrahydroisoquinoline
-
whole-cell assay, pH not specified in the publication, temperature not specified in the publication
2.3e-06
-
BM 15.766
-
whole-cell assay, pH not specified in the publication, temperature not specified in the publication
SPECIFIC ACTIVITY [µmol/min/mg]
SPECIFIC ACTIVITY MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
0.00011
-
-
testis enzyme, extract
0.000605
-
-
-
0.000756
-
-
-
0.00108
-
-
solubilized by 1.5% 3-[3-(cholamidopropyl)-dimethylammonio]-1-propanesulfonate, i.e. CHAPS, from microsomes
0.0023
-
-
liver enzyme, extract
additional information
-
-
-
additional information
-
-
relative activity levels in healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients
pH OPTIMUM
pH MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
5.6
-
-
acetate buffer
6.2
-
-
citrate buffer
6.8
-
-
assay at
7.3
-
-
Tris-maleate buffer
7.3
-
-
assay at, phosphate buffer 0.1 M
TEMPERATURE OPTIMUM
TEMPERATURE OPTIMUM MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
30
-
-
assay at
37
-
-
in vivo enzyme assay at
SOURCE TISSUE
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
SOURCE
-
high expression level
Manually annotated by BRENDA team
-
of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients
Manually annotated by BRENDA team
-
high expression level
Manually annotated by BRENDA team
Q9E2H5, Q9Z2Z8
; mainly expressed in
Manually annotated by BRENDA team
-
high desmosterol synthesis
Manually annotated by BRENDA team
-
exocrine, high desmosterol synthesis
Manually annotated by BRENDA team
-
of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients
Manually annotated by BRENDA team
-
coexpression of enzyme and Sonic Hedgehog, Shh, during midline development in embryo. Enzyme functions as an negative regulator in Hedghog signaling at the level or downstream of Smoothend and affects intracellular Hedgehog signaling
Manually annotated by BRENDA team
Q9UBM7
with holoprosencephaly at gestation age of 21 to 33 weeks
Manually annotated by BRENDA team
-
of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients
Manually annotated by BRENDA team
-
sterol spectra in hair from wild-type and Dhcr7 mutant mice, overview
Manually annotated by BRENDA team
-
low activity
Manually annotated by BRENDA team
Q9E2H5, Q9Z2Z8
; low expression level
Manually annotated by BRENDA team
-
progenitor cells, immature cells, and adult cells, differentially expressed transcripts and enzyme expression levels during development and differentiation, overview
Manually annotated by BRENDA team
-
high expression level
Manually annotated by BRENDA team
Q9E2H5, Q9Z2Z8
; mainly expressed in
Manually annotated by BRENDA team
-
mutation apoB38.9 in apolipoprotein B results in a hypobetalipoproteinemia-like phenotype and leads to downregulation of enzyme and several other cholesterogenic enzymes
Manually annotated by BRENDA team
Q9E2H5, Q9Z2Z8
-
Manually annotated by BRENDA team
-
15-20% of total activiy in brain, lipid exchange between microsomes and myelin
Manually annotated by BRENDA team
-
during early embryonic development, the expression of Xdhcr7 is first of all spatially restricted to the Spemannís organizer and later to the notochord. In both tissues, Xdhcr7 is coexpressed with Sonic hedgehog, Shh
Manually annotated by BRENDA team
-
during early embryonic development, the expression of Xdhcr7 is first of all spatially restricted to the Spemannís organizer and later to the notochord. In both tissues, Xdhcr7 is coexpressed with Sonic hedgehog, Shh
Manually annotated by BRENDA team
-
low activity
Manually annotated by BRENDA team
-
high expression level
Manually annotated by BRENDA team
-
high desmosterol synthesis
Manually annotated by BRENDA team
additional information
Q9E2H5, Q9Z2Z8
developmental/age-related expression pattern of Dhcr7-AS-1; developmental/age-related expression pattern of Dhcr7-AS-2; splicing variants Dhcr7-AS-1-5 are differentially expressed in the tissues
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
-
105000 x g fraction supernatant
Manually annotated by BRENDA team
Q9LDU6
low activity
Manually annotated by BRENDA team
-
Dhcr7 is a nine-pass transmembrane protein in the endoplasmic reticulum
Manually annotated by BRENDA team
-
9 putative transmembrane segments, predicted membrane topology of the enzyme
Manually annotated by BRENDA team
-
cytosolic sterol carrier protein required for activity
-
Manually annotated by BRENDA team
-
probably additional soluble cofactor required
-
Manually annotated by BRENDA team
-
cytosolic lipid transfer protein stimulates membrane bound enzyme activity
-
Manually annotated by BRENDA team
additional information
-
subcellular localization
-
Manually annotated by BRENDA team
additional information
-
subcellular localization
-
Manually annotated by BRENDA team
additional information
-
microsome fraction plus soluble fraction
-
Manually annotated by BRENDA team
additional information
-
membrane topology model
-
Manually annotated by BRENDA team
additional information
-
-
-
Manually annotated by BRENDA team
MOLECULAR WEIGHT
MOLECULAR WEIGHT MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
53970
-
A4F244, -
calculated from amino acid sequence
SUBUNITS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
?
-
? * 54500, sequence determination
?
-
? * 54200, SDS-PAGE
?
-
x * 54500, about, sequence calculation
additional information
-
protein structure
GENERAL STABILITY
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
Tween 80 stabilizes during enzyme assay
Q9UBM7
Purification/COMMENTARY
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
Cloned/COMMENTARY
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
expression of cDNA in Saccharomyces cerevisiae and overexpression of recombinant protein Escherichia coli, sequence analysis
Q9LDU6
gene characterization
-
expression in S2 cell
Q1JUZ2
expression in S2 cell
-
expression in Sf9 cell
-
DNA and amino acid sequence determination and polymorphism analysis of DNA from fetae with holoprosencephaly, naturally occurring mutations involved in pathogenesis are G344D, R404C, and G410S, overexpression of wild-type and mutant enzymes in Saccharomyces cerevisiae as myc-tagged proteins
Q9UBM7
DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 11q12-13
-
expression in Saccharomyces cerevisiae cells; full length cDNA and 5'-terminal truncated cDNA, for the latter M59 is the first encountered, gene characterization
-
expression of mouse embryonic fibroblasts, and in GLI1-positive AsPC1 cells
-
gene Dhcr7, DNA and amino acid sequence determination and analysis, no alternative splicing
Q9UBM7
gene dhcr7, maps to chromosome 11q13, determination of gene structure and organisation, DNA sequence determination and analysis of wild-type and natural mutant genes
-
expressed in Saccharomyces cerevisiae
A4F244, -
DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 7F5
-
analysis of differentially expressed transcripts of gene dhcr7 in progenitor Leydig cells and in immature Leydig cells, increased expression of the enzyme during differentiation process
-
DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 8q2.1
-
expression in Saccharomyces cerevisiae with c-myc epitope
-
gene Dhcr7, chromosome mapping to 8q2.1, DNA and amino acid sequence determination and analysis of the full-length gene and the splicing variants Dhcr7-AS-1-5, gene structure, physical map, 5 alternative splicing variants; gene Dhcr7, DNA and amino acid sequence determination and analysis, 1723 nucleotides, about 636 base pairs, gene structure, physical map, transcript half-life, alternative splicing variant 4; gene Dhcr7, DNA and amino acid sequence determination and analysis, gene structure, 1474 nucleotides, about 387 base pairs, physical map, transcript half-life, alternative splicing variant 1; gene Dhcr7, DNA and amino acid sequence determination and analysis, gene structure, 1595 nucleotides, about 508 base pairs, physical map, transcript half-life, alternative splicing variant 2
Q9E2H5, Q9Z2Z8
EXPRESSION
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
trans-1,4-bis(2-chlorobenzaminomethyl)cyclohexane dihydrochloride, i.e. AY9944, is a competitive inhibitor of DHCR7 enzyme activity and inductor of DHCR7 expression. The DHCR7 expression is also activated by antipsychotic drugs, e.g. clozapine, chlorpromazine, haloperidol, and antidepressants such as imipramine, overview
-
ENGINEERING
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
H190A
Q1JUZ2
mutation within Rieske [2Fe-2S]-motif, complete loss of activity
H282A
Q1JUZ2
mutation within non-heme Fe(II) binding motif, complete loss of activity
C122A
-
mutation within Rieske [2Fe-2S]-motif, complete loss of activity
D234A
-
mutation within non-heme Fe(II) binding motif, complete loss of activity
A247V
-
natural mutant, Smith-Lemli-Opitz syndrome patient, 3.1% of wild-type enzyme activity, disease severity score is not directly correlated
C380Y
-
natural mutant, Smith-Lemli-Opitz syndrome patient, 1.7% of wild-type enzyme activity, disease severity score is not directly correlated
E288K
Q9UBM7
mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation I251N
E448K
-
natural mutation present in patient with Smith-Lemli-Opitz syndrome
F174S
-
enzyme mutation in patients with Smith-Lemli-Opitz syndrome
G344D
Q9UBM7
site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, 50% reduced enzyme activity compared to the wild-type enzyme
G410S
Q9UBM7
site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, inactive mutant
H301R
-
enzyme mutation in patients with Smith-Lemli-Opitz syndrome
I251N
Q9UBM7
mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation E288K
N274K
-
enzyme mutation in patients with Smith-Lemli-Opitz syndrome
P51H
-
natural mutation present in patient with Smith-Lemli-Opitz syndrome
Q98X
-
enzyme mutation in patients with Smith-Lemli-Opitz syndrome
R404C
Q9UBM7
site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, inactive mutant
R466Q
-
natural mutant, Smith-Lemli-Opitz syndrome patient, 1.0% of wild-type enzyme activity, disease severity score is not directly correlated
R540L
-
natural mutation present in patient with Smith-Lemli-Opitz syndrome
S169L
-
natural mutant, Smith-Lemli-Opitz syndrome patient, 6.2% of wild-type enzyme activity, disease severity score is not directly correlated
T154M
-
natural mutant, Smith-Lemli-Opitz syndrome patient, 8.2% of wild-type enzyme activity, disease severity score is not directly correlated
T93M
-
natural mutant, Smith-Lemli-Opitz syndrome patient, 7.0% of wild-type enzyme activity, disease severity score is not directly correlated
T93M
-
natural mutation present in patient with Smith-Lemli-Opitz syndrome
T93M
-
enzyme mutation in patients with Smith-Lemli-Opitz syndrome
L99P
-
natural mutation present in patient with Smith-Lemli-Opitz syndrome
additional information
-
91 naturally occurring mutations, expression study, analysis of genotypes and phenotypes, e.g. the Smith-Lemli-Opitz syndrome, resulting from diverse naturally occurring mutations in gene dhcr7, biochemical and physiological effects, e.g. low cholesterol and high precurosor 7-hydrocholesterol contents, overview
additional information
-
mutation analysis and population study of patients with Smith-Lemli-Opitz syndrome, overview
additional information
-
analysis of dhcr7 gene structure and naturally occurring mutations in the dhcr7 gene leading to formation of several congenital disorders with diverse symptoms, mutant genotypes and phenotypes, overview
additional information
-
expression of enzyme in Caenorhabditis elegans which is suspected to be defective in 7-dehydrocholesterol reductase activity. Caenorhabditis elegans expressing enzyme contains 80% more cholesterol than wild-type control. Brood size is reduced by 40%, although the growth rate is not significantly changed. Mean life span is increased up to 131% in sterol-deficient medium, probably resulting from acquired resisitance against both UV irradiation and thermal stress
additional information
-
splice site mutation at the intron 8 - exon 9 splice junction, natural mutation present in patient with Smith-Lemli-Opitz syndrome
additional information
-
identification of seven distinct enzyme mutations in patients with Smith-Lemli-Opitz syndrome
additional information
-
enzyme knockdown by DHCR7 siRNA
W182L
-
enzyme mutation in patients with Smith-Lemli-Opitz syndrome
additional information
-
ectopic and increased cholesterol formation achieved by overexpression of mural Dhcr7 in Xenopus laevis leads to an expansion of the embryonic brain, at least in part at the expense of eye formation
T93M
-
naturally occuring mutation involved in Dhcr7 deficiency and the Smith-Lemli-Opitz syndrome, overview
additional information
-
knock down of enzyme synthesis by an antisense morpholino oligonucleotide. Inhibition of enzyme synthesis results in disturbance of the expression of eyefield marker genes in the early neurula stage embryos, and alters brain development, as the expression of Xgsh1, which demarcates the intermediate neurons, and that of Xnkx2.2, a ventral forebrain marker, are significantly reduced. Overexpression of large isoform Xdhcr7-L results in an impairment of eye development
APPLICATION
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
diagnostics
-
enzyme activity measurement can be a tool for prognosis of the Smith-Lemli-Opitz syndrome
diagnostics
-
enzyme activity measurement is useful for distinguishing Smith-Lemli-Opitz syndrome from carrier or unaffected cells, diagnosis of atypical cases, overview
medicine
-
mutational analysis of the DHCR7 gene in individuals from five families with Smith-Lemli-Opitz syndrome. No single mutation is responsible for the photosensitivity which characterizes Smith-Lemli-Opitz syndrome
medicine
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Smith-Lemli-Opitz syndrome is caused not only by disruption of the enzymatic role of 7-dehydrocholesterol reductase as a reductase in cholesterol biosynthesis, but may also involve defects in enzyme resulting in derepression of Sonic Hedgehog signaling
medicine
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screening of patients diagnosed for elevated 7-dehydrocholesterol levels identified three individuals affected with Smith-Lemli-Opitz Syndrome, and 22 with elevated 7-dehydrocholesterol levels in the absence of Smith-Lemli-Opitz Syndrome. Seven of these individuals showed no mutation in the gene encoding 7-dehydrocholesterol reductase. The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results
medicine
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mutation apoB38.9 in apolipoprotein B results in a hypobetalipoproteinemia-like phenotype and leads to downregulation of enzyme and several other cholesterogenic enzymes
medicine
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a 7-dehydrosterol reductase deficiency is known as Smith-Lemli-Opitz syndrome
medicine
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although cholesterol synthesis is impaired in both Dhcr7-deficient and lathosterol 5-desaturase-deficient embryonic brain tissues, the synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology
medicine
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construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14
diagnostics
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enzyme is a key marker of early Leydig cell steroidogenesis, using the technique of differential display RT-PCR