COX4I2

cytochrome c oxidase subunit 4I2

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 isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

Known Variants56 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6119610	20:30,225,540	G/T	—	benign
rs1189730987	20:30,225,726	G/A	—	likely benign
rs6088855	20:30,225,792	C/T	—	benign
rs536794053	20:30,226,461	G/A	—	—
rs6088856	20:30,226,543	C/G	—	benign
rs45557936	20:30,226,690	G/A	—	benign
rs6088857	20:30,226,764	G/C	—	benign
rs201853480	20:30,226,815	C/T	—	likely benign
rs199601484	20:30,226,848	G/A	—	uncertain significance
rs762669070	20:30,226,895	A/C	—	uncertain significance
rs766818155	20:30,226,917	C/T	—	likely benign
rs6088858	20:30,227,639	A/G	—	benign
rs141555235	20:30,227,726	G/T	—	benign
rs769650713	20:30,227,739	G/A	—	uncertain significance
rs148327783	20:30,227,741	G/C	—	likely benign
rs141463789	20:30,227,744	G/C	—	uncertain significance
rs61759491	20:30,227,767	C/T	—	likely benign
rs557000844	20:30,227,771	T/C	—	uncertain significance
rs752845668	20:30,227,807	C/T	—	uncertain significance
rs575560908	20:30,227,808	C/A	—	uncertain significance
rs539460095	20:30,227,827	C/T	—	likely benign
rs147223483	20:30,227,828	G/C	—	conflicting classifications of pathogenicity
rs201106165	20:30,227,884	C/T	—	likely benign
rs777150879	20:30,227,887	C/T	—	likely benign
rs2515481186	20:30,227,895	T/A	—	uncertain significance
rs6088864	20:30,228,157	G/A	—	benign
rs149245323	20:30,231,212	C/T	—	uncertain significance
rs766153518	20:30,231,234	T/C	—	uncertain significance
rs778959493	20:30,231,237	C/T	—	uncertain significance
rs754885839	20:30,231,238	G/A	—	likely benign
rs747692883	20:30,231,248	C/G	—	uncertain significance
rs762283502	20:30,231,287	T/G	—	uncertain significance
rs145481393	20:30,231,292	C/G	—	conflicting classifications of pathogenicity
rs760811527	20:30,231,295	C/T	—	likely benign
rs753597922	20:30,231,297	T/C	—	uncertain significance
rs765094514	20:30,231,304	C/T	—	likely benign
rs752734271	20:30,231,305	G/A	—	uncertain significance
rs2515486266	20:30,231,326	C/G	—	uncertain significance
rs772547609	20:30,231,337	C/T	—	uncertain significance
rs2515486356	20:30,231,349	A/G	—	likely benign
rs6060446	20:30,231,637	T/C	—	benign
rs1484998	20:30,232,289	T/C	—	benign
rs6120970	20:30,232,452	C/T	—	benign
rs7269866	20:30,232,504	G/A	—	benign
rs150196183	20:30,232,587	G/A	—	likely benign
rs375116097	20:30,232,599	G/A	—	likely benign
rs776562997	20:30,232,602	C/T	—	likely benign
rs119455950	20:30,232,603	G/A	missense variant	pathogenic
rs762792560	20:30,232,607	G/A	—	uncertain significance
rs552620771	20:30,232,655	T/C	—	likely benign
rs777980097	20:30,232,658	A/G	—	uncertain significance
rs1438970201	20:30,232,661	G/T	—	uncertain significance
rs781340542	20:30,232,672	C/T	—	uncertain significance
rs11907253	20:30,232,673	G/T	—	uncertain significance
rs2122342002	20:30,232,679	A/C	—	uncertain significance
rs6060454	20:30,232,904	T/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.