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 ...