Dihydrolipoyl Transacetylase Proteins (DLAT)

This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.

• midline uncoordinated (muc)
• dihydrolipoamide S-acetyltransferase L homeolog (dlat.L)
• dihydrolipoamide S-acetyltransferase (DLAT)
• dihydrolipoamide S-acetyltransferase (Dlat)
• dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) (dlat)
• Show all gene names
• dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) (Dlat)

• 6332404G05Rik protein
• anon-WO0118547.121 protein
• DLAT protein
• DLTA protein
• Dmel\\CG5261 protein
• Show all synonym aliases
• EP(2)0816 protein
• EP816 protein
• PDC-E2 protein
• PDCE2 protein
• wu:fc14f10 protein
• wu:fc21f08 protein
• wu:fc86g11 protein
• wu:fj57d06 protein

CG5261-PA , CG5261-PB , CG5261-PC , CG5261-PD , CG5261-PE , CG5261-PF , Dihydrolipoyllysine-residue acetyltransferase , dihydrolipoamide acetyltransferase , dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) , 70 kDa mitochondrial autoantigen of primary biliary cirrhosis , E2 component of pyruvate dehydrogenase complex , M2 antigen complex 70 kDa subunit , PBC , dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex , dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial , dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial , pyruvate dehydrogenase complex component E2 , dihydrolipoyllysine-residue acetyltransferase , E2 , PDC-E2 , PDCE2 , fc86g11 , fj57d06 , no optokinetic nystagmus a , no optokinetic response b , noa , nrb