COX6B1

cytochrome c oxidase subunit 6B1

Summary

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1042025219:36,139,172G/A—likely benign
rs57703660619:36,139,184A/G—uncertain significance
rs88605434319:36,139,270A/G—uncertain significance
rs196778476119:36,139,275G/A—uncertain significance
rs155571966219:36,139,281C/G—likely benign
rs11626820019:36,142,039A/G—likely benign
rs20031277519:36,142,127G/A—likely benign
rs89475779119:36,142,146A/G—uncertain significance
rs127190683819:36,142,151G/A—likely benign
rs37385089019:36,142,158A/C—uncertain significance
rs55596556719:36,142,163G/C—uncertain significance
rs799119:36,142,187C/T—benign
rs77874001719:36,142,203C/Tmissense variantpathogenic
rs12190960219:36,142,204G/Amissense variantpathogenic
rs251327405919:36,142,205C/T—likely benign
rs196782254419:36,142,247C/T—conflicting classifications of pathogenicity
rs77172260219:36,142,262C/T—likely benign
rs251327411419:36,142,264T/C—likely benign
rs77732299219:36,142,265T/C—likely benign
rs6122001219:36,142,296G/A—benign
rs14298073819:36,145,279T/C—benign
rs376109119:36,145,428G/A—benign
rs18774048719:36,145,457A/G—likely benign
rs20209838919:36,145,492G/A—conflicting classifications of pathogenicity
rs132798144219:36,145,496A/G—uncertain significance
rs76206595519:36,145,501C/T—likely benign
rs56906093819:36,145,502G/A—conflicting classifications of pathogenicity
rs76630303719:36,145,514G/A—uncertain significance
rs20122353719:36,145,523G/A—uncertain significance
rs102202271719:36,145,525G/T—likely benign
rs76576222619:36,145,529G/A—uncertain significance
rs134957055819:36,145,545T/C—uncertain significance
rs37702545019:36,145,566C/T—conflicting classifications of pathogenicity
rs134427389419:36,145,590A/C—likely benign
rs36875756719:36,145,592G/A—likely benign
rs37150271019:36,145,593G/A—likely benign
rs376109019:36,149,450C/T—benign
rs75557490219:36,149,487T/C—likely benign
rs37697304219:36,149,500C/T—uncertain significance
rs11611882719:36,149,516A/G—conflicting classifications of pathogenicity
rs77855932319:36,149,518G/T—uncertain significance
rs99079042619:36,149,523G/A—uncertain significance
rs196791318119:36,149,530C/T—uncertain significance
rs14195840419:36,149,531G/A—likely benign
rs11163860919:36,149,535C/T—uncertain significance
rs37440581919:36,149,537C/T—likely benign
rs36823119119:36,149,538G/A—uncertain significance
rs480618719:36,149,761G/A—benign
rs57290729919:36,149,810T/A—likely benign
rs54475955619:36,149,811T/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.