| Entrez gene ID | | 80270 |
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| Official gene symbol | | HSD3B7 |
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| Full name | | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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| Aliases | | ,PFIC4,SDR11E3, |
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| Gene 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] |
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| Location | | Chromosome: 16 Locus: 16p12-p11.2 |
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| Gene position | | 30996519 - 31000473 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 3955 bp |
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| Gene sequence |
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| OMIM ID | | 607764 |
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