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BCKDHA - branched chain keto acid dehydrogenase E1 subunit alpha

  • Synonym(s) : maple syrup urine disease, MSU
  • Previous symbols and names : 2-oxoisovalerate dehydrogenase (lipoamide), OVD1A, branched chain keto acid dehydrogenase E1, alpha polypeptide, branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
  • Type : gene with protein product
  • Chromosomal location : 19q13.2
  • OMIM: 608348
  • HGNC: 986
  • UniProtKB: P12694
  • Genatlas: BCKDHA
  • Ensembl: ENSG00000248098
  • IUPHAR-DB: -
  • Reactome: P12694

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

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