Disease-gene associations mined from literature

Literature associating BCKDHA and amino acid metabolic disorder

BCKDHA [ENSP00000269980]

Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

Synonyms:  BCKDHA,  A0A024R0K3,  B4DP47,  F5GXU9,  P12694 ...

Linkouts:  STRING  Pharos  UniProt  OMIM