Article
Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics.
The Journal of steroid biochemistry and molecular biology - 1 Oct 2007
Wang Liewei, Salavaggione Ezequiel, Pelleymounter Linda, Eckloff Bruce, Wieben Eric, Weinshilboum Richard
Abstract excerpt
The 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase isoenzymes 1 and 2 (HSD3B1 and HSD3B2) are membrane-bound enzymes that play essential roles in the biosynthesis of steroid hormones. Therefore, variation in the HSD3B1 and HSD3B2 genes might play a role in the pathophysiology of steroid hormone-related disease. We set out to systematically identify common polymorphisms and haplotypes in human...
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