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Gene : HSD3B2 Homo sapiens

Name  ? hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 Cytological Location  1p12
Brief Description  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Description  The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
  • synonyms:
  • HSD3B2,
  • BC038419,
  • OTTHUMG00000012526,
  • NM_000198,
  • uc021ost.2,
  • SDR11E2,
  • HGNC:5218,
  • HSD3B,
  • HSDB,
  • SDR11E2,
  • short chain dehydrogenase/reductase family 11E, member 2
  • identifiers:
  • 3284,
  • ENSG00000203859,
  • HSD3B2

Genome feature

Region: gene ? Length: 8109  
Location: 1:119414931-119423039 Cyto location: 1p12


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Proteins

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SNPs

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Disease

1 Diseases

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Expression

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275 SN Ps

5 Cross References

19 Data Sets

15 Homologues

0 Located Features

97 Rna Seq Results