COX10 Chromosome 17
Cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
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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 heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
17p12
Ensembl
ENSG00000006695
Associated Conditions (17)
Leigh syndrome
Mitochondrial complex IV deficiency
nuclear type 1
nuclear type 3
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Melanoma
Acute myeloid leukemia
Lung cancer
Cervical cancer
Sarcoma
COX10-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Malignant tumor of urinary bladder
Key Variants
RS111541535
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS113058506
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS114521946
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS116445114
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS141481210
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS143758001
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS144000161
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS145948022
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS145948285
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS146175179
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS199668725
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS199737206
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111541535 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS113058506 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS114521946 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS116445114 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS141481210 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS143758001 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS144000161 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS145948022 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS145948285 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS146175179 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS199668725 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS199737206 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS200942884 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex IV deficiency, nuclear type 3 |
| RS201257809 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS202207627 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS2142182514 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |
| RS368918847 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370260574 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS371273328 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS569444237 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS587780910 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 3, Thyroid cancer |
| RS587780911 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62052075 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS7214082 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS75839697 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS75844637 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS777911169 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS104894556 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |
| RS1425392070 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |
| RS1597527946 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS2508434662 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |
| RS369511505 | Health Risk | Likely pathogenic | — |
| RS104894555 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |
| RS104894557 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, nuclear type 1 |
| RS104894560 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |
| RS387906383 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 3, Mitochondrial complex IV deficiency |