Literature associating BCKDHB and ornithine carbamoyltransferase deficiency
BCKDHB [ENSP00000318351]
Branched-chain alpha-keto acid dehydrogenase E1 component beta 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: BCKDHB, B7ZB80, BCKDHB-001, BCKDHB-002, BCKDHB-003 ...