DISEASES

Disease-gene associations mined from literature

BCKDHB disease associations

BCKDHB [ENSP00000318351]

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; 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:  BCKDHB,  A0A140VKB3,  P21953,  P21953p,  hP21953 ...

Linkouts:  STRING  Pharos  UniProt  OMIM