Description
Product Characteristics:
The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: 3 beta-hydroxysteroid dehydrogenase type 7, 3 beta-hydroxysteroid dehydrogenase type VII, 3-beta-HSD VII, 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase, C(27) 3-beta-HSD, Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase, HSD3B7
Target Information: This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]