COX10

cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10

Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]

Known Variants238 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11358248217:13,972,483C/T—benign
rs11795364117:13,972,518G/T—likely benign
rs7912860717:13,972,522C/T—benign
rs88605259717:13,972,753C/G—uncertain significance
rs650233017:13,972,811G/A—benign
rs2868098717:13,972,814G/A—likely benign
rs88605259817:13,972,833G/T—uncertain significance
rs18880316517:13,972,834G/C—uncertain significance
rs7787757617:13,972,860T/C—likely benign
rs37692195717:13,972,883G/A—uncertain significance
rs74891637417:13,972,888A/G—likely benign
rs37318467917:13,972,894C/A—uncertain significance
rs20125780917:13,972,899G/A—conflicting classifications of pathogenicity
rs38790638317:13,972,924T/Cmissense variantpathogenic
rs75566878017:13,972,937G/T—likely benign
rs129579844317:13,972,940C/T—likely benign
rs75692045117:13,972,942C/G—uncertain significance
rs807678717:13,972,955C/T—likely benign
rs74863745917:13,972,956C/T—uncertain significance
rs37016783717:13,972,975C/G—likely benign
rs37561576617:13,972,977G/A—likely benign
rs230210717:13,973,131C/T—benign
rs230210617:13,973,149G/T—likely benign
rs7397915317:13,977,353G/A—benign
rs1187021317:13,977,462G/A—benign
rs7873406317:13,977,578G/A—likely benign
rs75964367617:13,977,637T/C—uncertain significance
rs250839591317:13,977,638A/G—uncertain significance
rs74888950017:13,977,644C/T—likely benign
rs74642679517:13,977,645G/A—uncertain significance
rs54073789717:13,977,660T/A—uncertain significance
rs76397931417:13,977,670A/G—uncertain significance
rs1694897817:13,977,679C/T—likely benign
rs140870624017:13,977,681A/G—likely benign
rs102360050717:13,977,682T/C—uncertain significance
rs14148121017:13,977,689C/A—conflicting classifications of pathogenicity
rs136704886017:13,977,690T/G—uncertain significance
rs88605259917:13,977,719G/A—uncertain significance
rs191509879717:13,977,766A/G—uncertain significance
rs74615862417:13,977,768C/T—uncertain significance
rs77222373017:13,977,769G/A—uncertain significance
rs11409692317:13,977,940C/T—benign
rs7397915417:13,979,800A/G—benign
rs223035117:13,980,058A/T—benign
rs56944423717:13,980,066G/A—conflicting classifications of pathogenicity
rs92075370817:13,980,086A/T—uncertain significance
rs37576578117:13,980,123C/G—uncertain significance
rs14400016117:13,980,134C/T—conflicting classifications of pathogenicity
rs13986599317:13,980,156A/G—likely benign
rs1694898617:13,980,164A/G—likely benign
rs76978836317:13,980,170T/G—uncertain significance
rs14594828517:13,980,176C/T—conflicting classifications of pathogenicity
rs36988379717:13,980,180C/T—likely benign
rs20048091517:13,980,181T/G—uncertain significance
rs20220762717:13,980,185C/T—conflicting classifications of pathogenicity
rs75927672017:13,980,186G/A—likely benign
rs214218246317:13,980,212C/G—uncertain significance
rs250840033017:13,980,226T/C—likely benign
rs250840036617:13,980,242C/T—uncertain significance
rs20142411917:13,980,254T/C—uncertain significance
rs191516867417:13,980,258A/G—likely benign
rs14154984417:13,980,268G/T—uncertain significance
rs74929834117:13,980,299G/A—likely benign
rs139795599217:13,980,309G/C—uncertain significance
rs36951150517:13,980,319C/Tstop gainedpathogenic
rs76716338617:13,980,328G/T—uncertain significance
rs77504494417:13,980,330T/G—uncertain significance
rs207227917:13,980,350G/A—benign
rs74546177817:13,980,354A/T—likely benign
rs76682821217:13,980,393T/C—likely benign
rs207227817:13,980,650T/G—benign
rs378568617:14,005,267G/A—benign
rs11483839417:14,005,305C/T—likely benign
rs101707617:14,005,373C/T—benign
rs210868317:14,005,386T/C—benign
rs14435248917:14,005,395C/T—likely benign
rs37373613117:14,005,416C/T—likely benign
rs37733430717:14,005,431G/A—likely benign
rs215913217:14,005,439A/G—benign
rs75829697217:14,005,451C/T—likely benign
rs214220022817:14,005,455G/A—uncertain significance
rs250843442117:14,005,458G/T—uncertain significance
rs14146632417:14,005,459C/T—uncertain significance
rs140666703617:14,005,463A/G—likely benign
rs19958357317:14,005,469A/G—likely benign
rs14359384717:14,005,470T/C—likely benign
rs74637836917:14,005,477C/T—uncertain significance
rs37127332817:14,005,478G/A—conflicting classifications of pathogenicity
rs37171280617:14,005,496C/T—likely benign
rs20082770117:14,005,498G/A—uncertain significance
rs10489455517:14,005,522C/Amissense variantpathogenic
rs75228700017:14,005,534C/A—uncertain significance
rs159750143917:14,005,546A/G—uncertain significance
rs10489456017:14,005,547C/Amissense variantpathogenic
rs19966872517:14,005,563A/G—conflicting classifications of pathogenicity
rs448694917:14,005,706G/A—benign
rs990983517:14,005,726T/G—benign
rs806456217:14,013,022G/A——
rs990072717:14,025,822T/A——
rs13966775917:14,029,728A/Gintron variant—

Showing 100 of 238 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.