HSD3B7 Polyclonal 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.

3 beta HSD VII;3 beta hydroxy Delta (5) C27 steroid oxidoreductase;3 beta hydroxysteroid dehydrogenase type 7;3 beta hydroxysteroid dehydrogenase type VII; AI195443; BB098564; C (27) 3 beta HSD; Cca2; Cholest 5 ene 3 beta;7 alpha diol 3 beta dehydrogenase; Confluent 3Y1 cell associated 2; Hydroxy delta 5 steroid dehydrogenase;3 beta and steroid delta isomerase 7; OTTMUSP00000018894; OTTMUSP00000018895; OTTMUSP00000018897; PFIC4; SDR11E3