{"symbol":"COA5","synonyms":["CEMCOX3","6330578E17RIK","C2ORF64","PET191"],"name":"cytochrome c oxidase assembly factor 5","description":"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]","ncbiEntrezGeneId":493753,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/493753","proteins":[{"symbol":"COA5_HUMAN","href":"/api/1.0/protein/COA5_HUMAN"}],"hgncRootFamilies":[{"name":"Mitochondrial respiratory chain complex assembly factors","href":"/api/1.0/gene_family/Mitochondrial+respiratory+chain+complex+assembly+factors"}]}