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gene: COX7A2

id1347
symbolCOX7A2
organismHomo sapiens
full namecytochrome c oxidase subunit 7A2
summaryCytochrome c oxidase, 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 three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]
variant-disease

GRCh37/hg19 6q13-14.1(chr6:75889207-76522602)x3 AND See cases

GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 AND not provided

GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 AND See cases

GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 AND See cases

GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) AND not provided

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