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DLAT dihydrolipoamide S-acetyltransferase

Also known as: DLTA; PDCE2; PDC-E2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Pyruvate dehydrogenase E2 deficiency
MedGen: C1855565OMIM: 245348GeneReviews: Not available
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Genomic context

Location:
11q23.1
Sequence:
Chromosome: 11; NC_000011.10 (112024814..112064278)
Total number of exons:
14

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