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. [provided by RefSeq, Oct 2009]

Description

Dihydrolipoamide S-acetyltransferase

Tissue specificity

Tissue enhanced (tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Citric acid cycle related proteins
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (112025408 - 112064404)

Ensembl ID

ENSG00000150768  (ver. 103.38)

Orthologs

Mouse Dlat: ENSMUSG00000000168

UniProt

P10515

neXtProt

NX_P10515

Human splice variants
Mouse splice variants

Protein structure