Function
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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.
Read more about this topic: 7-Dehydrocholesterol Reductase
Famous quotes containing the word function:
“The function of the actor is to make the audience imagine for the moment that real things are happening to real people.”
—George Bernard Shaw (1856–1950)
“The fact remains that the human being in early childhood learns to consider one or the other aspect of bodily function as evil, shameful, or unsafe. There is not a culture which does not use a combination of these devils to develop, by way of counterpoint, its own style of faith, pride, certainty, and initiative.”
—Erik H. Erikson (1904–1994)
“The function of muscle is to pull and not to push, except in the case of the genitals and the tongue.”
—Leonardo Da Vinci (1425–1519)