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Literature summary extracted from

  • Shim, Y.H.; Bae, S.H.; Kim, J.H.; Kim, K.R.; Kim, C.J.; Paik, Y.K.
    A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly (2004), Biochem. Biophys. Res. Commun., 315, 219-223.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.1.21 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 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.1.21 G344D site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, 50% reduced enzyme activity compared to the wild-type enzyme Homo sapiens
1.3.1.21 G410S site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, inactive mutant Homo sapiens
1.3.1.21 R404C site-directed mutagenesis, analogously to the naturally occurring mutation in holoprosencephaly, inactive mutant Homo sapiens

General Stability

EC Number General Stability Organism
1.3.1.21 Tween 80 stabilizes during enzyme assay Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.1.21 microsome
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH Homo sapiens last step in cholesterol biosynthesis cholesterol + NADP+
-
 ?
1.3.1.21 additional information Homo sapiens reduced enzyme activity due to mutation leads to holoprosencephaly in vivo, phenotype ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.1.21 Homo sapiens Q9UBM7 enzyme Dhcr7, gene dhcr7
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.1.21 fetus with holoprosencephaly at gestation age of 21 to 33 weeks Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH last step in cholesterol biosynthesis Homo sapiens cholesterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH i.e. 7-dehydrocholesterol Homo sapiens cholesterol + NADP+
-
 ?
1.3.1.21 additional information reduced enzyme activity due to mutation leads to holoprosencephaly in vivo, phenotype Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.3.1.21 Dhcr7
-
 Homo sapiens