[5][6][7] 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.

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.

[8] All house cats and dogs have higher-than-usual activity of this enzyme, causing an inability to synthesize vitamin D due to the lack of 7-dehydrocholesterol.

[§ 1] This article incorporates text from the United States National Library of Medicine, which is in the public domain.