Gene:
dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
Description:
Dihydrolipoamide acetyltransferase (DLAT; EC 2.3.1.12) is 1 of 6 components of the mammalian pyruvate dehydrogenase complex (PDC) of the inner mitochondrial membrane. Patients with primary biliary cirrhosis (PBC; MIM 109720) show autoantibodies to DLAT.[supplied by OMIM]