Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | C8orf38 | 137682 | | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | Cytochrome-c-oxidase deficiency in some fibers |
Human | ADCK3 | 56997 | aarF domain containing kinase 3 | Cytochrome-c-oxidase deficiency in some fibers |
Human | APTX | 54840 | aprataxin | Cytochrome-c-oxidase deficiency in some fibers |
Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | Cytochrome-c-oxidase deficiency in some fibers |
Human | PDSS1 | 23590 | prenyl (decaprenyl) diphosphate synthase, subunit 1 | Cytochrome-c-oxidase deficiency in some fibers |
Human | ETHE1 | 23474 | ethylmalonic encephalopathy 1 | Cytochrome c oxidase deficiency in skeletal muscle |
Human | SCO2 | 9997 | SCO2 cytochrome c oxidase assembly protein | report extends knowledge of the pathology of COX deficiency caused by mutations in the SCO2 gene Phenotypic overlap with cytochrome c oxidase deficiency ({220110}) Title:Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.|Association:Y|Conclusion:Not Found |
Human | SURF1 | 6834 | surfeit 1 | Four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of Leigh Syndrome with cytochrome c oxidase deficiency Subset of patients have cytochrome c oxidase deficiency (see {220110}) Three novel mutations of the SURF-1 gene were identified in Japanese patients with cytochrome c oxidase deficiency; loss of function of the SURF-1 protein; cytochrome c oxidase activity was decreased to less than 20% of the control mean Title:Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.|Association:Y|Conclusion:Not Found |
Human | SOD1 | 6647 | superoxide dismutase 1, soluble | These results establish that CCS/G93A SOD1 mice manifest an isolated complex IV deficiency which may underlie a substantial part of mutant SOD1-induced mitochondrial cytopathy |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | NDUFS8 | 4728 | NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | NDUFV1 | 4723 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | NDUFS3 | 4722 | NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | NDUFA2 | 4695 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | DLD | 1738 | dihydrolipoamide dehydrogenase | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |
Human | COX15 | 1355 | cytochrome c oxidase assembly homolog 15 (yeast) | Subset of patients have cytochrome c oxidase deficiency (see {220110}) A patient with typical clinical and neuroradiological features of Leigh syndrome and cytochrome oxidase deficiency was found to have a mutation in the COX15 gene |
Human | BCS1L | 617 | BC1 (ubiquinol-cytochrome c reductase) synthesis-like | Subset of patients have cytochrome c oxidase deficiency (see {220110}) |