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7-Dehydrocholesterol reductase
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7-Dehydrocholesterol reductase
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.
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.
A deficiency is associated with Smith–Lemli–Opitz syndrome.
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.
Click on genes, proteins and metabolites below to link to respective articles.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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7-Dehydrocholesterol reductase
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.
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.
A deficiency is associated with Smith–Lemli–Opitz syndrome.
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.
Click on genes, proteins and metabolites below to link to respective articles.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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