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.
Immunogen Information
Immunogen
Fusion protein of human DLAT
Swissprot
P10515
Synonyms
70 kDa mitochondrial autoantigen of primary biliary cirrhosisDihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complexDihydrolipoamide S AcetyltransferaseDihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydroge
Calculated MW
69 kDa
Gene Accession
BC039084
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:30-150, ELISA 1:2000-5000
Concentration
0.6 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4