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Literature summary for 1.3.1.21 extracted from

  • Ginat, S.; Battaile, K.P.; Battaile, B.C.; Maslen, C.; Gibson, K.M.; Steiner, R.D.
    Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome (2004), Mol. Genet. Metab., 83, 175-183.
    View publication on PubMed
Search for more literature for 1.3.1.21

Application

Application Comment Organism
diagnostics enzyme activity measurement is useful for distinguishing Smith-Lemli-Opitz syndrome from carrier or unaffected cells, diagnosis of atypical cases, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A247V natural mutant, Smith-Lemli-Opitz syndrome patient, 3.1% of wild-type enzyme activity, disease severity score is not directly correlated Homo sapiens
C380Y natural mutant, Smith-Lemli-Opitz syndrome patient, 1.7% of wild-type enzyme activity, disease severity score is not directly correlated Homo sapiens
additional information mutation analysis and population study of patients with Smith-Lemli-Opitz syndrome, overview Homo sapiens
R466Q natural mutant, Smith-Lemli-Opitz syndrome patient, 1.0% of wild-type enzyme activity, disease severity score is not directly correlated Homo sapiens
S169L natural mutant, Smith-Lemli-Opitz syndrome patient, 6.2% of wild-type enzyme activity, disease severity score is not directly correlated Homo sapiens
T154M natural mutant, Smith-Lemli-Opitz syndrome patient, 8.2% of wild-type enzyme activity, disease severity score is not directly correlated Homo sapiens
T93M natural mutant, Smith-Lemli-Opitz syndrome patient, 7.0% of wild-type enzyme activity, disease severity score is not directly correlated Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
cholesta-5,7-dien-3beta-ol + NADPH Homo sapiens final step in cholesterol biosynthesis cholesterol + NADP+
-
 ?
additional information Homo sapiens over 92% reduced enzyme activity, due to autosomal recessive mutational disorder, leads to the Smith-Lemli-Opitz syndrome in multiple cell types ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
amniocyte of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients Homo sapiens
-
chorionic villus of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients Homo sapiens
-
fibroblast of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 relative activity levels in healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
cholesta-5,7-dien-3beta-ol + NADPH final step in cholesterol biosynthesis Homo sapiens cholesterol + NADP+
-
 ?
cholesta-5,7-dien-3beta-ol + NADPH i.e. 7-dehydrocholesterol Homo sapiens cholesterol + NADP+
-
 ?
additional information over 92% reduced enzyme activity, due to autosomal recessive mutational disorder, leads to the Smith-Lemli-Opitz syndrome in multiple cell types Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
7-dehydrocholesterol DELTA7 reductase
-
 Homo sapiens
Dhcr7
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 in vivo enzyme assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
 Homo sapiens