HSD3B7 Antibody – Rabbit Polyclonal

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]

HSD3B7: 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. Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1); also known as neonatal progressive intrahepatic cholestasis. CBAS1 is due to a primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis and cirrhosis. Belongs to the 3-beta-HSD family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Lipid Metabolism - primary bile acid biosynthesis; Membrane protein, multi-pass; Oxidoreductase; EC 1.1.1.181

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity; 3-beta-hydroxy-delta5-steroid dehydrogenase activity

Biological Process: bile acid biosynthetic process; bile acid metabolic process

Disease: Bile Acid Synthesis Defect, Congenital, 1