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BCKDHB - branched chain keto acid dehydrogenase E1 subunit beta

  • Synonym(s) : 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, maple syrup urine disease
  • Previous symbols and names : branched chain keto acid dehydrogenase E1, beta polypeptide
  • Type : gene with protein product
  • Chromosomal location : 6q14.1
  • OMIM: 248611
  • HGNC: 987
  • UniProtKB: P21953
  • Genatlas: BCKDHB
  • Ensembl: ENSG00000083123
  • IUPHAR-DB: -
  • Reactome: P21953
  • LOVD: BCKDHB

Diseases list

  : Assessed

Additional information

Health care resources for this gene

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