COA5, Official Symbol COA5provided by HGNC Official Full Name cytochrome c oxidase assembly factor 5provided by HGNC Primary source HGNC:HGNC:33848 See related Ensembl:ENSG00000183513 MIM:613920; AllianceGenome:HGNC:33848 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MC4DN9; Pet191; C2orf64; CEMCOX3; 6330578E17Rik Summary This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues See more Orthologs mouse all