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Entry Name Description Category Pathway Gene
H01368 Cytochrome c oxidase (COX) deficiency
Mitochondrial complex IV deficiency (MT-C4D)
Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex ... Inherited metabolic disorder, Mitochondrial disease (MC4DN1) SURF1 [HSA:6834] [KO:K14998]
(MC4DN2) SCO2 [HSA:9997] [KO:K23755]
(MC4DN3) COX10 [HSA:1352] [KO:K02257]
(MC4DN4) SCO1 [HSA:6341] [KO:K07152]
(MC4DN5) LRPPRC [HSA:10128] [KO:K17964]
(MC4DN6) COX15 [HSA:1355] [KO:K02259]
(MC4DN7) COX6B1 [HSA:1340] [KO:K02267]
(MC4DN8) TACO1 [HSA:51204] [KO:K18189]
(MC4DN9) COA5 [HSA:493753] [KO:K18178]
(MC4DN10) COX14 [HSA:84987] [KO:K18181]
(MC4DN11) COX20 [HSA:116228] [KO:K18184]
(MC4DN12) PET100 [HSA:100131801] [KO:K18186]
(MC4DN13) COA6 [HSA:388753] [KO:K18179]
(MC4DN14) COA3 [HSA:28958] [KO:K18175]
(MC4DN15) COX8A [HSA:1351] [KO:K02273]
(MC4DN16) COX4I1 [HSA:1327] [KO:K02263]
(MC4DN17) COA8 [HSA:84334] [KO:K23506]
(MC4DN18) COX6A2 [HSA:1339] [KO:K02266]
(MC4DN19) PET117 [HSA:100303755] [KO:K18188]
(MC4DN20) COX5A [HSA:9377] [KO:K02264]
(MC4DN21) NDUFA4 [HSA:4697] [KO:K03948]
(MC4DN22) COX16 [HSA:51241] [KO:K18182]
(MC4DN23) COX11 [HSA:1353] [KO:K02258]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(MT-C4D) COX1 [HSA:4512] [KO:K02256]
(MT-C4D) COX2 [HSA:4513] [KO:K02261]
(MT-C4D) COX3 [HSA:4514] [KO:K02262]
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