| Protein Name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 80270 |
| Gene Symbol | HSD3B7 |
| UniProt | Q9H2F3 (3BHS7_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
11
Total Number of Articles : 10 |
Description |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| 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, Dec 2008] |
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