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Gene
MT-TL1
mitochondrially encoded tRNA-Leu (UUA/G) 1
- HGNC 7490↗(opens in a new tab)
- Ensembl gene ENSG00000209082↗(opens in a new tab)
- NCBI Gene 4567↗(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- TRNL1
- Previous symbols
- MTTL1
- Locus type
- RNA, transfer
MT-TL1mitochondria
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Get my Genome TestCurated report relevant to this gene
Diabetes Mellitus
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems
How a genome test reads MT-TL1
12
positions in MT-TL1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
Genes linked to the same conditions
- ABCC8ATP binding cassette subfamily C member 8Shares 1 condition
- AKT2AKT serine/threonine kinase 2Shares 1 condition
- APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1Shares 1 condition
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 1 condition
- CELcarboxyl ester lipaseShares 1 condition
- EIF2B1eukaryotic translation initiation factor 2B subunit alphaShares 1 condition
- EIF2S3eukaryotic translation initiation factor 2 subunit gammaShares 1 condition
- GATA4GATA binding protein 4Shares 1 condition
- GATA6GATA binding protein 6Shares 1 condition
- GCKglucokinaseShares 1 condition
- GLIS3GLIS family zinc finger 3Shares 1 condition
- HNF1AHNF1 homeobox AShares 1 condition
Traits linked to MT-TL1
The Human Phenotype Ontology lists these as features of the rare conditions MT-TL1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormality of movement
- Absent/small cerebral white matter
- Ataxia
- Dementia
- Difficulty finding words
- EEG abnormality
- Epilepsy
- Generalized myoclonic seizure
Show 57 more traits
- Migraine
- Widened cerebral subarachnoid space
- Abnormal gait
- Anxiety
- Brisk reflexes
- Chorea
- Cognitive impairment
- Degeneration of cerebrum
- Depression
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Dystonia
- Encephalopathy
- Fluctuations in consciousness
- Focal T2 hyperintense basal ganglia lesion
- Global developmental delay
- Grand mal seizures
- Impaired visuospatial constructive cognition
- Inability to coordinate movements when walking
- Jerking
- Memory impairment
- Nerve damage causing decreased feeling and movement
- Peripheral neuropathy
- Psychosis
- Recurrent paroxysmal headache
- Seizure affecting one half of brain
- Severe global developmental delay
- Short attention span
- Specific learning disability
- Weakness of one side of body
- Abnormal central motor function
- Abnormal prosody
- Agenesis of corpus callosum
- Bipolar disorder
- Brain degeneration
- Bulbar signs
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Demyelinating peripheral neuropathy
- Distal peripheral sensory neuropathy
- Disturbances of consciousness
- Elevated brain lactate level by MRS
- Hypsarrhythmia
- Increased reflexes
- Infantile spasms
- Intellectual disability, mild
- Loss of developmental milestones
- Mixed demyelinating and axonal polyneuropathy
- Motor delay
- Paralysis or weakness of one side of body
- Peripheral axonal neuropathy
- Personality changes
- Psychotic mentation
- Segmental peripheral demyelination/remyelination
- Stuttering
- Tremor
- Underdevelopment of part of brain called corpus callosum
Abnormality of the musculoskeletal system
- EMG abnormality
- Muscle abnormality related to mitochondrial dysfunction
- Muscle tissue disease
- Muscle weakness
- Ragged-red muscle fibers
- Axial muscle weakness
- Basal ganglia calcification
- Decreased lung function due to weak breathing muscles
Show 11 more traits
- Decreased muscle tone in infant
- Involuntary muscle stiffness, contraction, or spasm
- Low muscle tone
- Multiple fatty lumps
- Muscle degeneration
- Progressive intervertebral space narrowing
- Progressive proximal muscle weakness
- Spasticity and rigidity of muscles
- Delayed bone maturation
- Mitochondrial myopathy
- Neck muscle weakness
Laboratory abnormality
- Abnormality of Krebs cycle metabolism
- Higher than normal levels of lactate in blood
- Increased CSF lactate
- Increased lactate in body
- Diabetes mellitus
- Elevated blood creatine phosphokinase
- High urine lactic acid levels
- Increased CSF protein concentration
Show 11 more traits
- Mildly elevated creatine kinase
- 3-Methylglutaconic aciduria
- Accumulation of acid in body due to kidney problem
- Fever
- High urine protein levels
- Hypothermia
- Increased blood alanine
- Noninsulin-dependent diabetes
- Type 1 diabetes
- Decreased circulating citrulline concentration
- Increased circulating pyruvate concentration
Abnormality of the digestive system
- Episodic vomiting
- Feeding difficulties in infancy
- Vomiting
- Constipation
- Diarrhea
- Enlarged liver
- Gastrointestinal dysmotility
- Intestinal pseudo-obstruction
Show 3 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-TL1 gene: mitochondrially encoded tRNA-Leu (UUA/G) 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mt-tl1
Dante Labs. MT-TL1 gene: mitochondrially encoded tRNA-Leu (UUA/G) 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mt-tl1
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