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Gene : ACADM Homo sapiens

Name  ? acyl-CoA dehydrogenase medium chain Cytological Location  1p31.1
Brief Description  acyl-CoA dehydrogenase medium chain
Description  This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ACADM,
  • OTTHUMG00000009784,
  • ACAD1,
  • ACAD1,
  • acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain,
  • NM_000016,
  • medium-chain acyl-CoA dehydrogenase,
  • MCADH,
  • uc001dgw.6,
  • HGNC:89,
  • MCAD,
  • MCADH,
  • M16827,
  • MCAD
  • identifiers:
  • 34,
  • ENSG00000117054,

Genome feature

Region: gene ? Length: 38971  
Location: 1:75724709-75763679 Cyto location: 1p31.1

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1 Diseases

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3740 SNPs

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results