{"symbol":"COX10","synonyms":[],"name":"COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor","description":"Cytochrome c oxidase (COX), 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 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 function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":1352,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1352","proteins":[{"symbol":"COX10_HUMAN","href":"/api/1.0/protein/COX10_HUMAN"}],"hgncRootFamilies":[{"name":"Mitochondrial respiratory chain complex assembly factors","href":"/api/1.0/gene_family/Mitochondrial+respiratory+chain+complex+assembly+factors"}]}