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COXs

cytochrome c oxidases

 
The cytochrome c oxidase (COXs) are the terminal enzymes in the respiratory chain. Cytochrome c oxidase catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Mitochondrial DNA encodes 3 COX subunits, I-III (MIM.516030), and nuclear DNA encodes 10 (MIM.123870).

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)

Pathology

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)


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