COA8 Chromosome 14
Cytochrome c oxidase assembly factor 8
Upload your DNA to see your personal genotypes for variants in COA8.
What This Gene Does
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000256053
Associated Conditions (4)
Mitochondrial complex IV deficiency
nuclear type 17
Inborn genetic diseases
nuclear type 1
Key Variants
RS200801272
Conflicting classifications of pathogenicity
Health Risk
RS2274266
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 17, Inborn genetic diseases
Health Risk
RS375531411
Conflicting classifications of pathogenicity
Health Risk
RS535382401
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency
Health Risk
RS559856575
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 17
Health Risk
RS587777786
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency
Health Risk
RS778310543
Conflicting classifications of pathogenicity
Health Risk
RS2507477930
Likely pathogenic
Health Risk
RS2507478587
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency
Health Risk
RS753824369
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency
Health Risk
RS769966495
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency
Health Risk
RS778874587
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200801272 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2274266 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 17, Inborn genetic diseases |
| RS375531411 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS535382401 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS559856575 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 17 |
| RS587777786 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS778310543 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2507477930 | Health Risk | Likely pathogenic | — |
| RS2507478587 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS753824369 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS769966495 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS778874587 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS1566979450 | Health Risk | Pathogenic | — |
| RS1566980722 | Health Risk | Pathogenic | — |
| RS2076099474 | Health Risk | Pathogenic | — |
| RS2507477807 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS587777784 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS587777785 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS587777787 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 17, Mitochondrial complex IV deficiency |
| RS759966247 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |