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Literature summary for 1.3.1.21 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
Search for more literature for 1.3.1.21

Cloned(Commentary)

Cloned (Comment) Organism
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

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

General Stability

General Stability Organism
Tween 80 stabilizes during enzyme assay Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
microsome
-
 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 last step in cholesterol biosynthesis cholesterol + NADP+
-
 ?
additional information Homo sapiens reduced enzyme activity due to mutation leads to holoprosencephaly in vivo, phenotype ?
-
 ?

Organism

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

Source Tissue

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

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
cholesta-5,7-dien-3beta-ol + NADPH last 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 reduced enzyme activity due to mutation leads to holoprosencephaly in vivo, phenotype Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
Dhcr7
-
 Homo sapiens