Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

HSD3B7

Gene Alias

PFIC4, SDR11E3

Gene Description

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

3 beta-hydroxy-delta 5-C27-steroid oxidoreductase|3 beta-hydroxysteroid dehydrogenase type VII|3-beta-HSD VII|C(27)-3BETA-HSD|short chain dehydrogenase/reductase family 11E, member 3