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Gene entry

MTO1

mitochondrial tRNA translation optimization 1

Chromosome
6
Cytoband
6q13
Variants (rsID)
13

MTO1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q13). Its official name is “mitochondrial tRNA translation optimization 1”. The reference table lists 13 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs145043138Benignsingle nucleotide variantMitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • rs147329295Benignsingle nucleotide variantMitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • rs201544686Pathogenicsingle nucleotide variantMitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.