COX20 Chromosome 1
Cytochrome c oxidase assembly factor COX20
Upload your DNA to see your personal genotypes for variants in COX20.
What This Gene Does
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
1q44
Ensembl
ENSG00000203667
Associated Conditions (17)
Mitochondrial complex IV deficiency
nuclear type 1
Inborn genetic diseases
nuclear type 11
COX20-related disorder
Mitochondrial disease
Familial pancreatic carcinoma
Lymphoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Uterine corpus endometrial carcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of urinary bladder
Adrenocortical carcinoma
hereditary
Lung cancer
Key Variants
RS141476240
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS147700538
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 11
Health Risk
RS1680275439
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency
Health Risk
RS200065889
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 11, Inborn genetic diseases
Health Risk
RS764620077
Conflicting classifications of pathogenicity
Health Risk
RS749171144
Likely pathogenic
Health Risk
RS1057521790
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 11, COX20-related disorder
Health Risk
RS1227651240
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency
Health Risk
RS1456182343
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency
Health Risk
RS587777004
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency
Health Risk
RS766397584
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency
Health Risk
RS952915562
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141476240 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Inborn genetic diseases |
| RS147700538 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 11 |
| RS1680275439 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency |
| RS200065889 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 11, Inborn genetic diseases |
| RS764620077 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749171144 | Health Risk | Likely pathogenic | — |
| RS1057521790 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 11, COX20-related disorder |
| RS1227651240 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency |
| RS1456182343 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency |
| RS587777004 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency |
| RS766397584 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency |
| RS952915562 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 11, Mitochondrial complex IV deficiency |
| RS367956888 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 11 |