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Gene : HSD11B1 Homo sapiens

Name  ? hydroxysteroid 11-beta dehydrogenase 1 Cytological Location  1q32.2
Brief Description  hydroxysteroid 11-beta dehydrogenase 1
Description  The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]
  • synonyms:
  • HSD11,
  • SDR26C1,
  • HSD11B1,
  • OTTHUMG00000036481,
  • hydroxysteroid (11-beta) dehydrogenase 1,
  • uc021pin.2,
  • HSD11L,
  • 11-beta-HSD1,
  • HSD11B,
  • SDR26C1,
  • CORTRD2,
  • NM_005525,
  • BC012593,
  • HDL,
  • HSD11,
  • HSD11B,
  • HGNC:5208,
  • 11-DH,
  • short chain dehydrogenase/reductase family 26C, member 1
  • identifiers:
  • 3290,
  • ENSG00000117594,
  • HSD11B1

Genome feature

Region: gene ? Length: 48771  
Location: 1:209686180-209734950 Cyto location: 1q32.2


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Disease

1 Diseases

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104 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results