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Locations
Orders Processing,
Shipping & Receiving,
Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
Production Lab
Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
Telephone Numbers
Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
Contact Us
Additional Contact Details
order histories, retained contact details for faster checkout, review submissions, and special promotions.
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order histories, retained contact details for faster checkout, review submissions, and special promotions.
HSD3B7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSD3B7 is 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.
| Gene Name: | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| Synonyms: | HSD3B7, 3-beta-HSD VII, CBAS1, C(27) 3-beta-HSD, C(27)-3BETA-HSD, PFIC4, SDR11E3 |
| Target Sequences: | NM_025193 NP_079469.2 Q9H2F3 |
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