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Gene : HSD17B10 Homo sapiens

Name  ? hydroxysteroid 17-beta dehydrogenase 10 Cytological Location  Xp11.22
Brief Description  hydroxysteroid 17-beta dehydrogenase 10
Description  This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]
  • synonyms:
  • ERAB,
  • MRPP2,
  • MRXS10,
  • HGNC:4800,
  • SDR5C1,
  • uc004dsl.2,
  • NM_004493,
  • hydroxysteroid (17-beta) dehydrogenase 10,
  • 17b-HSD10,
  • type 10 17b-HSD,
  • HSD10MD,
  • MRX17,
  • MRPP2,
  • MHBD,
  • CAMR,
  • mitochondrial RNase P subunit 2,
  • OTTHUMG00000021612,
  • hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II,
  • AB-binding alcohol dehydrogenase,
  • SCHAD,
  • MHBD,
  • MRX31,
  • DUPXp11.22,
  • SDR5C1,
  • HCD2,
  • HADH2,
  • MRXS10,
  • type 10 17beta-hydroxysteroid dehydrogenase,
  • ABAD,
  • ERAB,
  • ABAD,
  • 17b-HSD10,
  • HADH2,
  • short chain dehydrogenase/reductase family 5C, member 1,
  • HSD17B10,
  • CAMR,
  • mental retardation, X-linked, syndromic 10,
  • U96132
  • identifiers:
  • 3028,
  • ENSG00000072506,
  • HSD17B10

Genome feature

Region: gene ? Length: 3119  
Location: X:53431258-53434376 reverse strand Cyto location: Xp11.22


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1 Diseases

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3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results