EC number 1.3.1.21 | Entrez 1717 | |
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Aliases DHCR7, SLOS, 7-dehydrocholesterol reductase External IDs OMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7 | ||
7-dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.
Contents
Function
The protein encoded by this gene is an enzyme catalyzing the production of cholesterol from 7-Dehydrocholesterol using NADPH.
The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.
Pathology
A deficiency is associated with Smith-Lemli-Opitz syndrome.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.