COX11 Chromosome 17
Cytochrome c oxidase copper chaperone COX11
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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 a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000166260
Associated Conditions (2)
Mitochondrial complex IV deficiency
nuclear type 23
Key Variants
RS1269413739
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency
Health Risk
RS2509376984
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency
Health Risk
RS2509425417
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency
Health Risk
RS770990177
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1269413739 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency |
| RS2509376984 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency |
| RS2509425417 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency |
| RS770990177 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 23, Mitochondrial complex IV deficiency |