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:
“Every boy was supposed to come into the world equipped with a father whose prime function was to be our father and show us how to be men. He can escape us, but we can never escape him. Present or absent, dead or alive, real or imagined, our father is the main man in our masculinity.”
—Frank Pittman (20th century)
“Any translation which intends to perform a transmitting function cannot transmit anything but information—hence, something inessential. This is the hallmark of bad translations.”
—Walter Benjamin (1892–1940)
“Think of the tools in a tool-box: there is a hammer, pliers, a saw, a screwdriver, a rule, a glue-pot, nails and screws.—The function of words are as diverse as the functions of these objects.”
—Ludwig Wittgenstein (1889–1951)