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:
“It is the function of vice to keep virtue within reasonable bounds.”
—Samuel Butler (1835–1902)
“The information links are like nerves that pervade and help to animate the human organism. The sensors and monitors are analogous to the human senses that put us in touch with the world. Data bases correspond to memory; the information processors perform the function of human reasoning and comprehension. Once the postmodern infrastructure is reasonably integrated, it will greatly exceed human intelligence in reach, acuity, capacity, and precision.”
—Albert Borgman, U.S. educator, author. Crossing the Postmodern Divide, ch. 4, University of Chicago Press (1992)
“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)