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GENATLAS PHENOTYPE

last update : 21/08/2006

Symbol	MTCO3
Location	mt
Name	mitochondrial myopathy, with recurrent myoglobinuria (COX deficiency)
Other name(s)	ferrocytochrome c : oxygen oxidoreductase
Corresponding gene	MT-CO3
related resource	MITOP database
Other symbol(s)	COX3
Main clinical features	including adult-onset form and leigh-like syndrome including mild, childhood onset, slowly progressive myopathy with lactic acidosis and ragged red fibers
Genetic determination	mitochondrial
Function/system disorder	neuromuscular

Gene product

Name	cytochrome c oxidase, subunit III (15bp deletion), nt 9952G->A, component of the complex IV, terminal enzyme complex for electron transfert, oxidative phosphorylation (OXPHOS), mitochondrial, 9537Cins, heteroplasmic G9379A mutation