Gene: HSD3B7

Alternate names for this Gene: CBAS1|PFIC4|SDR11E3

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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Type of Gene: protein-coding

rs104894518 in HSD3B7 gene and Bile acid synthesis defect, congenital, 1 PMID 11067870 2000 The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.

PMID 12679481 2003 Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.

rs2305880 in HSD3B7 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.