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:
“Philosophical questions are not by their nature insoluble. They are, indeed, radically different from scientific questions, because they concern the implications and other interrelations of ideas, not the order of physical events; their answers are interpretations instead of factual reports, and their function is to increase not our knowledge of nature, but our understanding of what we know.”
—Susanne K. Langer (1895–1985)
“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)
“If the children and youth of a nation are afforded opportunity to develop their capacities to the fullest, if they are given the knowledge to understand the world and the wisdom to change it, then the prospects for the future are bright. In contrast, a society which neglects its children, however well it may function in other respects, risks eventual disorganization and demise.”
—Urie Bronfenbrenner (b. 1917)