HSD3B7 Antibody

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.

CBAS1, PFIC4, SDR11E3, 3 beta-hydroxysteroid dehydrogenase type 7, 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase, 3 beta-hydroxysteroid dehydrogenase type VII, 3-beta-HSD VII, 3-beta-hydroxy-Delta (5) -C27 steroid oxidoreductase, C (27) -3BETA-HSD, c (27) 3-beta-HSD, cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase, short chain dehydrogenase/reductase family 11E, member 3