HSD3B7, Official Symbol HSD3B7provided by HGNC Official Full Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7provided by HGNC Primary source HGNC:HGNC:18324 See related Ensembl:ENSG00000099377 MIM:607764; AllianceGenome:HGNC:18324 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CBAS1; PFIC4; SDR11E3 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, Dec 2008] Expression Ubiquitous expression in liver (RPKM 10.0), kidney (RPKM 6.4) and 25 other tissues See more Orthologs mouse all