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
Orthologs:
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Genome Assembly GRCh381630,984,668 - 30,989,152+NCBI
Human Alternate Assembly CHM1_11632,313,519 - 32,317,473+NCBI
Human Genome Assembly HuRef1628,558,975 - 28,562,929+NCBI
Human Genome Assembly GRCh371630,995,949 - 31,000,473+NCBI
Human Celera Assembly1629,296,983 - 29,300,937-NCBI
Human Genome Assembly Build 361630,904,033 - 30,907,972+NCBI
Human Cytogenetic Map16p11.2 NCBI
Human Genome Assembly1630,904,032 - 30,907,972 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HSD3B7
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 734010
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2014-10-22
Status: ACTIVE