MTO1 Chromosome 6
Mitochondrial tRNA translation optimization 1
Upload your DNA to see your personal genotypes for variants in MTO1.
What This Gene Does
This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
6q13
Ensembl
ENSG00000135297
Associated Conditions (7)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Inborn genetic diseases
Abnormal brain morphology
Nonpapillary renal cell carcinoma
Mitochondrial oxidative phosphorylation disorder
Global developmental delay
MTO1-related disorder
Key Variants
RS1025884753
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS1175598290
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS1275100093
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS140592470
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS141970072
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS145658455
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS149407452
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS1582665975
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS201279883
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS201544686
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS371179032
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
RS377702561
Conflicting classifications of pathogenicity
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2533261350 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS2533279241 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS2533285524 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS372842922 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS397518449 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS398122419 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS746293185 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS771939280 | Health Risk | Pathogenic | Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases |
| RS934138970 | Health Risk | Pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS1250411982 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS143747297 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial oxidative phosphorylation disorder, Global developmental delay |
| RS200583827 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS748152539 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS755954353 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS764848745 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS769532203 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MTO1-related disorder, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS775623164 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |