3Beta-HSD7 Polyclonal Antibody, 20ul

HSD3B7 encodes an enzyme (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7) 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 HSD3B7 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 HSD3B7.