Members
3 mitochondrial COX genes (COX1, COX2, COX3), one mitochondrial tRNA(ser) (MTTS1) (MIM.590080)
COX1
COX2
COX3
COX4
COX5
COX6
COX7
COX8
COX9
COX10 (mutations in progressive mitochondrial encephalopathy with proximal renal tubulopathy due to cytochrome C oxidase deficiency) (MIM.602125)
COX11
COX12
COX13
COX14
COX15 (mutations in early-onset fatal hypertrophic cardiomyopathy)
SCO1 (17p12-12) (mutations in early-onset hepatic failure with neurologic disorder) (MIM.603644)
SCO2 (22q13) (fatal infantile cardioencephalomyopathy due to cytochrome C oxydase deficiency (MIM.604272)
Deficiencies in the activity of cytochrome c oxidases, COXs deficiency, mitochondrial respiratory chain complex IV deficiency (MIM.220110)
frequent cause of autosomal recessive mitochondrial disease in infants.
COX15 mutations in fatal infantile hypertrophic cardiomyopathy
SCO2 mutations in fatal infantile cardioencephalomyopathy (MIM.604377)