Symbol: Name: ID: |
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 GFS:7195 |
Gene name: | HSD3B7 |
Chromosome: | 16p11.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | C(27)-3BETA-HSD, SDR11E3 |
Name Aliases: | short chain dehydrogenase/reductase family 11E, member 3 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2141879 | Rat Genome Database ID: | RGD:628727 |
HGNC ID: | HGNC:18324 | RefSeq IDs: | NM_001142777 |
Entrez Gene ID: | 80270 | Ensembl Gene ID: | ENSG00000099377 |
VEGA IDs: | OTTHUMG00000132417 | UniProt ID: | Q9H2F3 |
UCSC ID: | uc002eaf.2 | OMIM ID: | 607764 |
Pubmed: | PMID11067870 PMID 19027726 | ||
CCDS IDs: | CCDSCCDS10698.1 CCDS CCDS45466.1 |
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].
Function: The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.
Products for HSD3B7 gene
Catalog | Product Name | Application | Company |
GFS:E07195 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; ELISA kit | ELISA | n/a |
GFS:A07195 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; Anti | ANTIBODIES | n/a |
GFS:P07195 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; Protien | Protien | n/a |