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Gene : HSD3B7 Homo sapiens

Name  ? hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Cytological Location  16p11.2
Brief Description  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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, Dec 2008]
  • synonyms:
  • HSD3B7,
  • OTTHUMG00000132417,
  • PFIC4,
  • NM_001142777,
  • HGNC:18324,
  • uc002eaf.3,
  • CBAS1,
  • C(27)-3BETA-HSD,
  • SDR11E3,
  • AF277719,
  • short chain dehydrogenase/reductase family 11E, member 3,
  • SDR11E3
  • identifiers:
  • 80270,
  • ENSG00000099377,
  • HSD3B7

Genome feature

Region: gene ? Length: 3964  
Location: 16:30985189-30989152 Cyto location: 16p11.2


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Disease

1 Diseases

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3756 SN Ps

5 Cross References

18 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results