PDHX

pyruvate dehydrogenase complex component X

Summary

The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Known Variants317 total

rsidPosition (GRCh37)AllelesClassClinVar
rs376393211:34,937,363C/T—benign
rs376393111:34,937,416G/A—benign
rs376393011:34,937,486G/C—benign
rs201682111:34,937,601A/T—benign
rs56146321211:34,937,684C/A—likely benign
rs201681411:34,937,697T/C—benign
rs1692644811:34,937,698G/A—benign
rs98817149711:34,937,718G/C—uncertain significance
rs295611411:34,937,813G/A—benign
rs77456562011:34,937,832G/A—uncertain significance
rs88604824511:34,937,845G/A—uncertain significance
rs76119987011:34,937,849C/T—uncertain significance
rs56732950911:34,937,861A/G—likely benign
rs295611311:34,937,884G/A—benign
rs295611211:34,937,901A/G—benign
rs53859595411:34,937,926C/G—uncertain significance
rs295611111:34,937,931G/A—benign
rs78015397911:34,937,932G/T—uncertain significance
rs55538038111:34,937,995C/T—likely benign
rs11307324211:34,938,001A/G—benign
rs213393143111:34,938,025T/C—uncertain significance
rs75931899811:34,938,041C/A—uncertain significance
rs88604824611:34,938,048G/A—uncertain significance
rs11203282011:34,938,074C/T—benign
rs37513012511:34,938,079G/C—benign
rs295611011:34,938,115C/A—benign
rs52980175311:34,938,176C/T—uncertain significance
rs20103336411:34,938,180C/A—benign
rs75168096411:34,938,196C/T—uncertain significance
rs381840111:34,938,199C/G—benign
rs75305313511:34,938,207C/T—uncertain significance
rs14740398211:34,938,221C/G—uncertain significance
rs77824864311:34,938,224G/T—uncertain significance
rs37425472511:34,938,225G/C—uncertain significance
rs185371883211:34,938,227T/C—uncertain significance
rs159072148511:34,938,229T/G—uncertain significance
rs213393193311:34,938,230G/T—uncertain significance
rs129180256911:34,938,234C/A—uncertain significance
rs20041915111:34,938,237G/A—uncertain significance
rs127157820311:34,938,239C/T—likely benign
rs77518507911:34,938,240T/C—uncertain significance
rs38790699811:34,938,246G/Amissense variantpathogenic
rs11813642811:34,938,249A/C—conflicting classifications of pathogenicity
rs295610911:34,938,265C/T—benign
rs104930611:34,938,269C/T—benign
rs1153920111:34,938,272C/G—likely pathogenic
rs185372383411:34,938,282G/A—uncertain significance
rs75424979911:34,938,284C/T—likely benign
rs75797046411:34,938,299C/T—uncertain significance
rs104930711:34,938,310T/C—benign
rs159072169811:34,938,316C/T—likely benign
rs74797795011:34,938,318G/C—uncertain significance
rs106479680711:34,938,336G/Astop gainedpathogenic
rs213393221411:34,938,353T/A—uncertain significance
rs77231512011:34,938,357T/G—uncertain significance
rs116375778811:34,938,359C/T—uncertain significance
rs14667822111:34,938,362G/A—conflicting classifications of pathogenicity
rs88604278111:34,938,371C/T—conflicting classifications of pathogenicity
rs213393224111:34,938,373G/A—likely benign
rs37557419611:34,938,374G/C—likely benign
rs18730418911:34,938,377C/G—likely benign
rs381839711:34,938,456A/G—benign
rs381839611:34,938,551A/G—benign
rs249465346911:34,952,936T/G—likely benign
rs20043867511:34,952,945T/C—conflicting classifications of pathogenicity
rs130622382211:34,952,949A/G—likely pathogenic
rs185416235111:34,952,956C/G—uncertain significance
rs119560363111:34,952,963A/C—uncertain significance
rs77698189111:34,952,981T/G—uncertain significance
rs130955689811:34,952,989A/G—uncertain significance
rs76564307111:34,952,992A/G—uncertain significance
rs91231828111:34,953,001G/T—pathogenic
rs57490508611:34,953,015A/G—likely benign
rs7887805211:34,953,034G/A—benign
rs213394661611:34,953,039G/A—likely benign
rs54369699611:34,953,046T/A—likely benign
rs1228921811:34,953,055C/A—benign
rs1103293211:34,953,088G/T—benign
rs7745205211:34,953,204G/A—likely benign
rs295612411:34,956,480A/T——
rs221747911:34,957,455A/Gintron variant—
rs1229412511:34,960,725G/Cupstream gene variant—
rs18893045311:34,969,036C/T—likely benign
rs19958331511:34,969,049G/A—conflicting classifications of pathogenicity
rs55405180911:34,969,053G/A—uncertain significance
rs74586660311:34,969,059C/T—uncertain significance
rs37662863811:34,969,060G/A—benign
rs20056282111:34,969,061G/A—uncertain significance
rs130419651211:34,969,096T/C—likely benign
rs97143997211:34,969,104C/T—uncertain significance
rs37321154511:34,969,106G/C—uncertain significance
rs1153920211:34,969,112A/G—benign
rs249468467211:34,969,121G/A—uncertain significance
rs14645645411:34,969,128A/G—uncertain significance
rs7291295411:34,969,130G/A—uncertain significance
rs126952926611:34,969,131A/T—uncertain significance
rs249468471411:34,969,134G/A—uncertain significance
rs3458294111:34,969,150C/T—benign
rs53870020411:34,976,941A/C——
rs20072801711:34,978,882G/A—likely benign

Showing 100 of 317 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.