DISEASES

Disease-gene associations mined from literature

Literature associating OXCT1 and pyruvate decarboxylase deficiency

OXCT1 [ENSP00000196371]

Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate; Belongs to the 3-oxoacid CoA-transferase family.

Synonyms:  OXCT1,  OXCT1p,  hOXCT1,  A0A024R040,  E9PDW2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM