7-Dehydrocholesterol reductase
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.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, the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol to cholesterol. This enzyme removes the C 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.
