Gene
MT-TK
mitochondrially encoded tRNA-Lys (AAA/G)
- HGNC 7489(opens in a new tab)
- Ensembl gene ENSG00000210156(opens in a new tab)
- NCBI Gene 4566(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- trnK
- Previous symbols
- MERRF, MTTK
- Locus type
- RNA, transfer
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Leigh Syndrome
One of 69 genes linked to it
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
How a genome test reads MT-TK
5
positions in MT-TK where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
Traits linked to MT-TK
The Human Phenotype Ontology lists these as features of the rare conditions MT-TK can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Abnormality of movement
- Ataxia
- Generalized myoclonic seizure
- Mild global developmental delay
- Slurred speech
- Chorea
- Cognitive impairment
Show 24 more traits
- Disorder of involuntary muscle movements
- Dystonia
- Encephalopathy
- Epilepsy
- Focal T2 hyperintense basal ganglia lesion
- Grand mal seizures
- Inability to coordinate movements when walking
- Mental deterioration
- Nerve damage causing decreased feeling and movement
- Severe global developmental delay
- Abnormal prosody
- Bulbar signs
- Decreased reflex response
- Demyelinating peripheral neuropathy
- Febrile seizure (within the age range of 3 months to 6 years)
- Increased reflexes
- Infantile spasms
- Loss of developmental milestones
- Peripheral neuropathy
- Segmental peripheral demyelination/remyelination
- Dementia
- Jerking
- Migraine
- Weakness of one side of body
Abnormality of the eye
- Optic atrophy
- Pigmentary retinopathy
- Progressive external ophthalmoplegia
- Weakness of muscles controlling eye movement
- Involuntary, rapid, rhythmic eye movements
- Rod-cone dystrophy
- Cerebral visual impairment
- Clouding of the lens of the eye at birth
Show 2 more traits
External links
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- 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.). MT-TK gene: mitochondrially encoded tRNA-Lys (AAA/G). Retrieved 16 October 2026, from https://dantelabs.com/genes/mt-tk
Dante Labs. MT-TK gene: mitochondrially encoded tRNA-Lys (AAA/G) [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mt-tk
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