SCO2 Chromosome 22
Synthesis of cytochrome C oxidase 2
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What This Gene Does
Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000284194
Associated Conditions (13)
Cardioencephalomyopathy
fatal infantile
due to cytochrome c oxidase deficiency 1
Myopia 6
Mitochondrial complex IV deficiency
nuclear type 1
Inborn genetic diseases
SCO2-related disorder
Alagille syndrome due to a JAG1 point mutation
Severe global developmental delay
Seizure
Tip-toe gait
Primary dilated cardiomyopathy
Key Variants
RS112793292
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Health Risk
RS138294250
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Health Risk
RS139545104
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Cardioencephalomyopathy
Health Risk
RS145052206
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Cardioencephalomyopathy
Health Risk
RS145100473
Conflicting classifications of pathogenicity
Myopia 6, Cardioencephalomyopathy, fatal infantile
Health Risk
RS148930837
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200605042
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Health Risk
RS201909075
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Cardioencephalomyopathy
Health Risk
RS2522477780
Conflicting classifications of pathogenicity
Health Risk
RS2522478733
Conflicting classifications of pathogenicity
Myopia 6, Cardioencephalomyopathy, fatal infantile
Health Risk
RS28937598
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Health Risk
RS370450171
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28937868 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS368831999 | Health Risk | Pathogenic | — |
| RS74315510 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS74315511 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS745534256 | Health Risk | Pathogenic | — |
| RS763990034 | Health Risk | Pathogenic | — |
| RS767634441 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS80358232 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS1248665081 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS1358061279 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS1403421269 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS1426095369 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS1427577461 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS2522469440 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS74315512 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS749838192 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Cardioencephalomyopathy, fatal infantile |
| RS759452074 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS762796240 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
| RS780824645 | Health Risk | Pathogenic/Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |