Profil protéine

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.

Gene names and symbols associated with DLAT

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

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

Protein level used designations for DLAT

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