1.3.1.21: 7-dehydrocholesterol reductase
This is an abbreviated version!
For detailed information about 7-dehydrocholesterol reductase, go to the full flat file.
Word Map on EC 1.3.1.21
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1.3.1.21
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smith-lemli-opitz
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malformation
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cyp2r1
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anomaly
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25-hydroxyvitamin
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syndactyly
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d-related
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desmosterol
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8-dehydrocholesterol
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dhcr24
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genitalia
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oxysterols
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holoprosencephaly
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rsh
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ecdysteroids
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cholesterogenic
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medicine
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diagnostics
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25-hydroxylase
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trazodone
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aripiprazole
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ebp
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hmgcs1
- 1.3.1.21
-
smith-lemli-opitz
- malformation
- cyp2r1
- anomaly
-
25-hydroxyvitamin
-
syndactyly
-
d-related
- desmosterol
- 8-dehydrocholesterol
- dhcr24
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genitalia
- oxysterols
- holoprosencephaly
- rsh
- ecdysteroids
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cholesterogenic
- medicine
- diagnostics
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25-hydroxylase
- trazodone
- aripiprazole
- ebp
- hmgcs1
Reaction
Synonyms
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, Csa7G447780, DAF-36, DELTA5,7-sterol DELTA7-reductase, Des7, Dhcr7, Dhcr7-AS-1, Dhcr7-AS-2, Dhcr7-AS-4, Dwarf5 protein, DWF5, Neverland, Nvd, reductase, 7-dehydrocholesterol, Sterol delta-7-reductase, sterol DELTA7 reductase, sterol DELTA7-reductase
ECTree
1.3.1.21 7-dehydrocholesterol reductaseAdvanced search results
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results (Engineering
Engineering on EC 1.3.1.21 - 7-dehydrocholesterol reductase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
H282A
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
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natural mutant, Smith-Lemli-Opitz syndrome patient, 3.1% of wild-type enzyme activity, disease severity score is not directly correlated
C380Y
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natural mutant, Smith-Lemli-Opitz syndrome patient, 1.7% of wild-type enzyme activity, disease severity score is not directly correlated
E288K
E448K
G344D
site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, 50% reduced enzyme activity compared to the wild-type enzyme
G410S
I251N
mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation E288K
L99P
Q98X
R404C
R466Q
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natural mutant, Smith-Lemli-Opitz syndrome patient, 1.0% of wild-type enzyme activity, disease severity score is not directly correlated
S169L
T154M
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natural mutant, Smith-Lemli-Opitz syndrome patient, 8.2% of wild-type enzyme activity, disease severity score is not directly correlated
T93M
T93M
additional information
E288K
mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation I251N
G410S
site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, inactive mutant
R404C
site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, inactive mutant
S169L
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natural mutant, Smith-Lemli-Opitz syndrome patient, 6.2% of wild-type enzyme activity, disease severity score is not directly correlated
T93M
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natural mutant, Smith-Lemli-Opitz syndrome patient, 7.0% of wild-type enzyme activity, disease severity score is not directly correlated
T93M
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naturally occuring mutation involved in Dhcr7 deficiency and the Smith-Lemli-Opitz syndrome, overview
T93M
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naturally occuring mutation involved in Dhcr7 deficiency and the Smith-Lemli-Opitz syndrome, overview
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additional information
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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
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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
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mutation analysis and population study of patients with Smith-Lemli-Opitz syndrome, overview
additional information
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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
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identification of seven distinct enzyme mutations in patients with Smith-Lemli-Opitz syndrome
additional information
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splice site mutation at the intron 8 - exon 9 splice junction, natural mutation present in patient with Smith-Lemli-Opitz syndrome
additional information
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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
additional information
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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
