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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HSD3B7-20-RE | 20 (40 μL) | 200 μL |  |
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| HSD3B7-20-OR | 20 (40 μL) | 200 μL |  |
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| HSD3B7-20-GO | 20 (40 μL) | 200 μL |  |
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| HSD3B7-20-GR | 20 (40 μL) | 200 μL |  |
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| HSD3B7-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : HSD3B7
Gene Name : Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Chromosome : CHR 16: 309,851,88-309,891,51
Locus : 16p11.2
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