HSD3B7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Synonyms:
CBAS1, PFIC4, SDR11E3
Species:
Human HSD3B7 (80270), Mouse Hsd3b7 (101502), Rat Hsd3b7 (246211), sheep HSD3B7 (101105716), domestic guinea pig Hsd3b7 (100716211), naked mole-rat Hsd3b7 (101708818), Zebrafish hsd3b7 (327462), chicken HSD3B7 (417505), cow HSD3B7 (540229), domestic cat HSD3B7 (101090824)
UniProtKB ID:
Gene ID:
- Human(80270) 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]
- Mouse(101502) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- Rat(246211) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- sheep(101105716) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- domestic guinea pig(100716211) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- naked mole-rat(101708818) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- Zebrafish(327462) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase
- chicken(417505) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- cow(540229) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- domestic cat(101090824) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- dog(489917) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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