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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
Specifications
Specifications
| Antigen | HSD3B7 |
| Applications | ELISA, Western Blot |
| Classification | Polyclonal |
| Conjugate | Unconjugated |
| Description | Mouse polyclonal antibody raised against a partial recombinant HSD3B7. |
| Formulation | 50% glycerol |
| Gene | HSD3B7 |
| Gene Accession No. | NM_025193 |
| Gene Alias | PFIC4/SDR11E3 |
| Gene Symbols | HSD3B7 |
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