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Gene : EHHADH Homo sapiens

Name  ? enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase Cytological Location  3q27.2
Brief Description  enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Description  The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
  • synonyms:
  • LBP,
  • ECHD,
  • L-PBE,
  • uc003fpf.3,
  • NM_001166415,
  • EHHADH,
  • FRTS3,
  • LBFP,
  • HGNC:3247,
  • ECHD,
  • enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase,
  • L07077,
  • PBFE,
  • OTTHUMG00000156698
  • identifiers:
  • 1962,
  • ENSG00000113790,
  • EHHADH

Genome feature

Region: gene ? Length: 63426  
Location: 3:185190624-185254049 reverse strand Cyto location: 3q27.2


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results