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Gene : HSD17B4 Homo sapiens

Name  ? hydroxysteroid 17-beta dehydrogenase 4 Cytological Location  5q23.1
Brief Description  hydroxysteroid 17-beta dehydrogenase 4
Description  The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
  • synonyms:
  • NM_000414,
  • 17-beta-hydroxysteroid dehydrogenase 4,
  • 17-beta-HSD IV,
  • peroxisomal multifunctional protein 2,
  • OTTHUMG00000128899,
  • hydroxysteroid (17-beta) dehydrogenase 4,
  • DBP,
  • HGNC:5213,
  • SDR8C1,
  • MPF-2,
  • MFE-2,
  • 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase,
  • PRLTS1,
  • short chain dehydrogenase/reductase family 8C, member 1,
  • beta-keto-reductase,
  • D-bifunctional protein, peroxisomal,
  • uc003ksj.4,
  • beta-hydroxyacyl dehydrogenase,
  • D-3-hydroxyacyl-CoA dehydratase,
  • 17beta-estradiol dehydrogenase type IV,
  • DBP,
  • HSD17B4,
  • SDR8C1,
  • MFE-2
  • identifiers:
  • 3295,
  • ENSG00000133835,
  • HSD17B4

Genome feature

Region: gene ? Length: 89836  
Location: 5:119452497-119542332 Cyto location: 5q23.1

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2 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results