DLAT

dihydrolipoamide S-acetyltransferase

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]

Known Variants268 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7356195011:111,895,193G/T—benign
rs227639111:111,895,253A/T—benign
rs227639011:111,895,254G/T—benign
rs11486350411:111,895,560G/A—likely benign
rs7829856811:111,895,599C/T—benign
rs58768877811:111,896,040G/A—likely benign
rs11506705211:111,896,041C/G—likely benign
rs14214358611:111,896,182G/A—likely benign
rs78279445011:111,896,205C/T—likely benign
rs103503472611:111,896,228A/C—uncertain significance
rs15014539011:111,896,242G/A—benign
rs128634591811:111,896,250C/A—likely benign
rs6175721711:111,896,251G/C—likely benign
rs20088823511:111,896,274G/A—likely benign
rs131667881511:111,896,279T/C—uncertain significance
rs213767447611:111,896,294G/A—uncertain significance
rs37133394111:111,896,303C/G—uncertain significance
rs18382929211:111,896,305C/G—conflicting classifications of pathogenicity
rs230343611:111,896,324C/Tmissense variantlikely benign
rs37180958311:111,896,327G/T—uncertain significance
rs36774521111:111,896,340G/A—likely benign
rs155517912011:111,896,342C/T—uncertain significance
rs78252980111:111,896,356G/T—uncertain significance
rs19952018611:111,896,361C/G—conflicting classifications of pathogenicity
rs78226034311:111,896,363G/C—uncertain significance
rs249839355511:111,896,365G/T—uncertain significance
rs15099414911:111,896,373C/T—likely benign
rs143667893511:111,896,384C/T—uncertain significance
rs78205128411:111,896,404C/T—uncertain significance
rs129304931111:111,896,418G/A—likely benign
rs249839421711:111,896,427T/C—likely benign
rs58773578811:111,896,436G/A—likely benign
rs78267209511:111,896,448C/T—likely benign
rs78220286311:111,896,449T/C—uncertain significance
rs78197060111:111,896,461C/A—uncertain significance
rs78207808211:111,896,463C/A—likely benign
rs78239363311:111,896,464C/G—uncertain significance
rs78247377211:111,896,466G/C—benign
rs18797470611:111,896,488C/A—likely benign
rs78189004511:111,896,493C/T—likely benign
rs20193427611:111,896,514T/C—likely benign
rs13787914111:111,896,524A/G—likely benign
rs19297136411:111,896,531G/A—likely benign
rs67083811:111,896,801T/C—benign
rs78214954811:111,896,907C/T—likely benign
rs78179671611:111,896,922G/C—uncertain significance
rs213767863311:111,896,948A/G—likely benign
rs20107025411:111,896,960C/A—likely benign
rs78227148211:111,896,967G/A—uncertain significance
rs20014783511:111,896,985G/A—uncertain significance
rs155517924511:111,896,997A/G—uncertain significance
rs86322395011:111,897,001A/G—likely benign
rs155517924711:111,897,009G/T—uncertain significance
rs186199942611:111,897,014A/C—likely benign
rs186200085711:111,897,024G/T—likely pathogenic
rs55279311:111,897,028G/T—benign
rs155517925111:111,897,029T/G—uncertain significance
rs116542130711:111,897,030T/A—likely benign
rs78204842411:111,897,031T/G—likely benign
rs136347665711:111,897,032T/G—likely benign
rs7533757311:111,897,045T/A—benign
rs197442611:111,897,050A/T—benign
rs249842425611:111,899,220C/G—likely benign
rs78255850011:111,899,223C/T—likely benign
rs14467743411:111,899,239G/A—conflicting classifications of pathogenicity
rs88604769311:111,899,259T/C—likely benign
rs13850589911:111,899,267T/Gmissense variantuncertain significance
rs78199135511:111,899,269G/T—pathogenic
rs213769804011:111,899,274C/T—likely benign
rs78193681611:111,899,280G/A—conflicting classifications of pathogenicity
rs249842531311:111,899,285G/T—uncertain significance
rs120160021111:111,899,293G/A—uncertain significance
rs213769826911:111,899,315G/A—uncertain significance
rs79704495711:111,899,327T/Gmissense variantpathogenic
rs78181782511:111,899,334C/T—likely benign
rs78218910411:111,899,335G/A—uncertain significance
rs249842607111:111,899,338G/A—uncertain significance
rs125790723311:111,899,339C/T—uncertain significance
rs58762746211:111,899,343C/G—likely benign
rs20078610411:111,899,344A/G—likely benign
rs78184046811:111,899,346C/T—likely benign
rs78266293711:111,899,349T/C—likely benign
rs78224428511:111,899,372T/C—likely benign
rs7784669511:111,899,374C/T—benign
rs37235521811:111,899,375G/A—likely benign
rs37434356511:111,899,500T/A—likely benign
rs213769940711:111,899,504T/G—likely benign
rs36760572711:111,899,519T/A—likely benign
rs20104600011:111,899,533C/G—uncertain significance
rs20048842011:111,899,572C/A—uncertain significance
rs78222563311:111,899,577C/T—pathogenic
rs14310785311:111,899,579A/G—likely benign
rs20050050811:111,899,581C/T—uncertain significance
rs213769992911:111,899,586C/G—uncertain significance
rs14944066611:111,899,592C/T—conflicting classifications of pathogenicity
rs155517970111:111,899,601G/A—uncertain significance
rs78195143811:111,899,614C/T—uncertain significance
rs14815344311:111,899,615G/A—likely benign
rs1155359511:111,899,635A/G—benign
rs14067877211:111,899,637G/A—likely benign

Showing 100 of 268 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.