MPC1

mitochondrial pyruvate carrier 1

Summary

The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

Known Variants46 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37286:166,778,679T/G—benign
rs12132811746:166,778,927G/A—uncertain significance
rs1461849456:166,778,929C/T—likely benign
rs1391630776:166,778,930G/A—uncertain significance
rs15830543686:166,778,935A/T—likely benign
rs753046166:166,779,034T/A—benign
rs5780027676:166,779,463C/T—uncertain significance
rs122055726:166,779,464G/A—benign
rs2006947456:166,779,466G/A—likely benign
rs17791354496:166,779,477C/T—likely pathogenic
rs3879072376:166,779,478G/Amissense variantpathogenic
rs17791364236:166,779,485C/T—likely benign
rs25340243966:166,779,493G/C—uncertain significance
rs5634918846:166,779,515G/A—likely benign
rs3879072386:166,779,531A/Tmissense variantpathogenic
rs2011420776:166,779,540C/T—uncertain significance
rs17791404816:166,779,547G/T—uncertain significance
rs15542649776:166,779,553T/C—likely pathogenic
rs8679580376:166,779,559C/T—likely pathogenic
rs7662005466:166,779,593G/A—likely benign
rs25340249596:166,779,608C/T—likely benign
rs1161409386:166,779,678T/C—benign
rs2013153506:166,780,274C/A—likely benign
rs7536016976:166,780,295G/A—uncertain significance
rs21149438626:166,780,346G/A—likely pathogenic
rs115570646:166,780,349T/G—benign
rs7815610886:166,780,381T/C—uncertain significance
rs69133536:166,780,481G/A—benign
rs168988966:166,780,721C/T—benign
rs1153091236:166,783,636C/A—benign
rs1385510646:166,783,707G/A—uncertain significance
rs13461954016:166,783,717G/A—likely benign
rs1492665336:166,783,833C/G—likely benign
rs5446490076:166,796,012G/T—likely benign
rs732651596:166,796,226G/A—benign
rs2022220556:166,796,277C/T—benign
rs17798544966:166,796,302G/C—uncertain significance
rs25340849506:166,796,315T/G—uncertain significance
rs794986856:166,796,335C/T—likely benign
rs5677987566:166,796,353C/T—likely benign
rs15468546:166,796,433C/A—benign
rs92953376:166,796,665C/T—benign
rs1141473756:166,796,683C/T—benign
rs92838656:166,796,720T/C—benign
rs5724480176:166,796,821G/A—likely benign
rs92953386:166,796,832C/G—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.