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:
“Uses are always much broader than functions, and usually far less contentious. The word function carries overtones of purpose and propriety, of concern with why something was developed rather than with how it has actually been found useful. The function of automobiles is to transport people and objects, but they are used for a variety of other purposes—as homes, offices, bedrooms, henhouses, jetties, breakwaters, even offensive weapons.”
—Frank Smith (b. 1928)
“The function of literature, through all its mutations, has been to make us aware of the particularity of selves, and the high authority of the self in its quarrel with its society and its culture. Literature is in that sense subversive.”
—Lionel Trilling (1905–1975)
“Our father has an even more important function than modeling manhood for us. He is also the authority to let us relax the requirements of the masculine model: if our father accepts us, then that declares us masculine enough to join the company of men. We, in effect, have our diploma in masculinity and can go on to develop other skills.”
—Frank Pittman (20th century)