Variously termed mitochondrial complex IV, cytochrome c oxidase, or COX, this complex is the last enzyme in the mitochondrial respiratory electron transport chain. Mutational lesions in many genes can result in COX deficiency. In mammals, 16 COX subunits are nuclear in origin and 3 are encoded in the mitochondrial genome. In addition, there are numerous assembly factors required for the synthesis and processing of the various subunits, and correct assembly within the inner mitochondrial membrane. A number of subtypes of Leigh syndrome (MIM:256000; FBhh0000099) are caused by genes that affect mitochondrial complex IV.
[updated Aug. 2016 by FlyBase; FBrf0222196]
Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency) is clinically heterogeneous, ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood. [from MIM:220110; 2016.08.12]
Mitochondrial complex IV deficiency can be caused by mutation in multiple nuclear-encoded and mitochondrial-encoded genes. Some forms of Leigh syndrome (MIM:256000) are also associated with mitochondrial complex IV deficiency. [from MIM:220110; 2016.08.12]
In mammals, 16 COX subunits are nuclear in origin and 3 are encoded in the mitochondrial genome. [HGNC, Gene Family: http://www.genenames.org/cgi-bin/genefamilies/set/643; 2016.08.16]
Cytochrome c oxidase, or mitochondrial complex IV, catalyzes the final step in mitochondrial electron transfer chain. [from MIM:220110; 2016.08.12]
