TACO1 Chromosome 17
Translational activator of cytochrome c oxidase I
Upload your DNA to see your personal genotypes for variants in TACO1.
What This Gene Does
This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000136463
Associated Conditions (5)
Mitochondrial complex IV deficiency
nuclear type 1
TACO1-related disorder
Inborn genetic diseases
nuclear type 8
Key Variants
RS139687237
Conflicting classifications of pathogenicity
Health Risk
RS150607307
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS17549732
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, TACO1-related disorder
Health Risk
RS182355403
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS377438959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS569941836
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial complex IV deficiency, nuclear type 8
Health Risk
RS778960378
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS1064793277
Likely pathogenic
Health Risk
RS2033819494
Likely pathogenic
Health Risk
RS2033870567
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS587776513
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 8
Health Risk
RS775291283
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8, Mitochondrial complex IV deficiency
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139687237 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150607307 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS17549732 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, TACO1-related disorder |
| RS182355403 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS377438959 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS569941836 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex IV deficiency, nuclear type 8 |
| RS778960378 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1064793277 | Health Risk | Likely pathogenic | — |
| RS2033819494 | Health Risk | Likely pathogenic | — |
| RS2033870567 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS587776513 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 8 |
| RS775291283 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 8, Mitochondrial complex IV deficiency |
| RS759254294 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 8, Mitochondrial complex IV deficiency |
| RS765093638 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 8, Inborn genetic diseases |
| RS2510878653 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 8, Mitochondrial complex IV deficiency |