Gene: HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7) Homo sapiens
Symbol: HSD3B7
Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type 7; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; c(27) 3-beta-HSD; C(27)-3BETA-HSD; CBAS1; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; OTTHUMP00000163254; PFIC4; SDR11E3; short chain dehydrogenase/reductase family 11E, member 3
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381630,985,189 - 30,989,152 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371630,995,949 - 31,000,473 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,904,033 - 30,907,972 (+)NCBINCBI36hg18NCBI36
Build 341630,904,032 - 30,907,972NCBI
Celera1629,296,983 - 29,300,937 (-)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1628,558,975 - 28,562,929 (+)NCBIHuRef
CHM1_11632,313,519 - 32,317,473 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on HSD3B7
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 734010
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-02-26
Status: ACTIVE