COX15 Chromosome 10

Cytochrome c oxidase assembly factor COX15
56 variants 56 Health Risk

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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
All Variants (56)
RSID Category Clinical Significance Conditions
RS774366079 Health Risk Pathogenic
RS149718203 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
RS201002908 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
RS777659902 Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary, 1
RS778412019 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
RS886046611 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
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