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Merck

HSD3B7

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Synonyms:
CBAS1, PFIC4, SDR11E3
Species:
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
  • 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
  • sheep(101105716) 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
  • naked mole-rat(101708818) 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
  • chicken(417505) 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

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