Girish Mahajan (Editor)

7 Dehydrocholesterol reductase

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Covid-19
EC number  1.3.1.21
Human  Mouse
Species  Human
Entrez  1717
7-Dehydrocholesterol reductase
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.

References

7-Dehydrocholesterol reductase Wikipedia


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