Gene
MTO1
mitochondrial tRNA translation optimization 1
- HGNC 19261↗(opens in a new tab)
- Ensembl gene ENSG00000135297↗(opens in a new tab)
- NCBI Gene 25821↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q13
- Coordinates
- Chromosome 6: 73,461,737–73,509,236 (GRCh38)
- Exons
- 12 exons across 47.5 kb
- Protein
- 692 amino acids
- MANE Select transcript
- ENST00000498286.6NM_012123.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Primary Mitochondrial Disease
- Combined Oxidative Phosphorylation Deficiency
Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can end a diagnostic search and guide surveillance and supportive care.
How MTO1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.7 kb of the gene's 47.5 kb; 2,079 of those bases code for the protein.
How a genome test reads MTO1
65
positions in MTO1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 47.5 kb of MTO1, introns included, not only the 10.7 kb of exons.
Genes linked to the same conditions
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP5F1AATP synthase F1 subunit alphaShares 1 condition
- ATP5F1DATP synthase F1 subunit deltaShares 1 condition
- ATP5F1EATP synthase F1 subunit epsilonShares 1 condition
- ATP5POATP synthase peripheral stalk subunit OSCPShares 1 condition
- C1QBPcomplement C1q binding proteinShares 1 condition
- C2orf69chromosome 2 open reading frame 69Shares 1 condition
- CARS2cysteinyl-tRNA synthetase 2, mitochondrialShares 1 condition
- CRLS1cardiolipin synthase 1Shares 1 condition
- EARS2glutamyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ELAC2elaC ribonuclease Z 2Shares 1 condition
Traits linked to MTO1
The Human Phenotype Ontology lists these as features of the rare conditions MTO1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MTO1 gene: mitochondrial tRNA translation optimization 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mto1
Dante Labs. MTO1 gene: mitochondrial tRNA translation optimization 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mto1
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