7-Dehydrocholesterol reductase

7-dehydrocholesterol reductase, also known as DHCR7, is a is_associated_with::protein that in humans is encoded by the DHCR7 is_associated_with::gene.

Function
The is_associated_with::protein encoded by this gene is an is_associated_with::enzyme catalyzing the production of is_associated_with::cholesterol from is_associated_with::7-Dehydrocholesterol using is_associated_with::NADPH.

The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts is_associated_with::7-dehydrocholesterol (7-DHC) to is_associated_with::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 is_associated_with::Smith-Lemli-Opitz syndrome.