Entrez gene ID | | 6718 |
Official gene symbol | | AKR1D1 |
Full name | | aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) |
Aliases | | ,3o5bred,CBAS2,SRD5B1, |
Gene summary | | The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq] |
Location | | Chromosome: 7 Locus: 7q32-q33 |
Gene position | | 137761178 - 137803050 Map Viewer |
Gene orientation | | plus |
Gene size | | 41873 bp |
Gene sequence |
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OMIM ID | | 604741 |
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