COX15 Chromosome 10
Cytochrome c oxidase assembly factor COX15
Upload your DNA to see your personal genotypes for variants in COX15.
What This Gene Does
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000014919
Associated Conditions (11)
Leigh syndrome
COX15-related disorder
Cardioencephalomyopathy
fatal infantile
due to cytochrome c oxidase deficiency 2
Inborn genetic diseases
Familial cancer of breast
See cases
Thyroid cancer
nonmedullary
1
Key Variants
RS138293000
Conflicting classifications of pathogenicity
Leigh syndrome, COX15-related disorder, Cardioencephalomyopathy
Health Risk
RS141066870
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141830307
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Health Risk
RS147881961
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS151116399
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192078749
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Health Risk
RS200910834
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Health Risk
RS2036978379
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS2231678
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS2231682
Conflicting classifications of pathogenicity
Leigh syndrome, COX15-related disorder, Leigh syndrome
Health Risk
RS370595065
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS397514662
Conflicting classifications of pathogenicity
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138293000 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, COX15-related disorder, Cardioencephalomyopathy |
| RS141066870 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141830307 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS147881961 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS151116399 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS192078749 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS200910834 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS2036978379 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS2231678 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS2231682 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, COX15-related disorder, Leigh syndrome |
| RS370595065 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS397514662 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS542092025 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS556026559 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746654907 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751819645 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS757725009 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS761365669 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766283832 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS771992107 | Health Risk | Conflicting classifications of pathogenicity | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS777349150 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS777532861 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Inborn genetic diseases, Leigh syndrome |
| RS79410539 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS988250515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cardioencephalomyopathy, fatal infantile |
| RS1259153475 | Health Risk | Likely pathogenic | — |
| RS1409285901 | Health Risk | Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS2036859860 | Health Risk | Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS2492679787 | Health Risk | Likely pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS2492707791 | Health Risk | Likely pathogenic | — |
| RS2492731708 | Health Risk | Likely pathogenic | — |
| RS2492746592 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS746383265 | Health Risk | Likely pathogenic | — |
| RS775234363 | Health Risk | Likely pathogenic | — |
| RS1163745614 | Health Risk | Pathogenic | — |
| RS1329751426 | Health Risk | Pathogenic | — |
| RS2036864117 | Health Risk | Pathogenic | — |
| RS2492707413 | Health Risk | Pathogenic | — |
| RS2492707758 | Health Risk | Pathogenic | — |
| RS2492721228 | Health Risk | Pathogenic | — |
| RS2492722405 | Health Risk | Pathogenic | — |
| RS2492722994 | Health Risk | Pathogenic | — |
| RS2492726078 | Health Risk | Pathogenic | — |
| RS2492726663 | Health Risk | Pathogenic | — |
| RS2492734911 | Health Risk | Pathogenic | — |
| RS2492747662 | Health Risk | Pathogenic | — |
| RS28939711 | Health Risk | Pathogenic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| RS748468371 | Health Risk | Pathogenic | — |
| RS756368998 | Health Risk | Pathogenic | — |
| RS757975752 | Health Risk | Pathogenic | — |
| RS772578318 | Health Risk | Pathogenic | — |