Gene
MT-TH
mitochondrially encoded tRNA-His (CAU/C)
- HGNC 7487(opens in a new tab)
- Ensembl gene ENSG00000210176(opens in a new tab)
- NCBI Gene 4564(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- trnH
- Previous symbols
- MTTH
- Locus type
- RNA, transfer
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How a genome test reads MT-TH
3
positions in MT-TH 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-TH
The Human Phenotype Ontology lists these as features of the rare conditions MT-TH 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 36 more traits
- Migraine
- Widened cerebral subarachnoid space
- Abnormal gait
- Anxiety
- Cognitive impairment
- Depression
- Encephalopathy
- Fluctuations in consciousness
- Grand mal seizures
- Impaired visuospatial constructive cognition
- Jerking
- Memory impairment
- Peripheral neuropathy
- Psychosis
- Recurrent paroxysmal headache
- Seizure affecting one half of brain
- Short attention span
- Specific learning disability
- Weakness of one side of body
- Abnormal central motor function
- Agenesis of corpus callosum
- Bipolar disorder
- Brain degeneration
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Distal peripheral sensory neuropathy
- Disturbances of consciousness
- Elevated brain lactate level by MRS
- Global developmental delay
- Mixed demyelinating and axonal polyneuropathy
- Motor delay
- Nerve damage causing decreased feeling and movement
- Peripheral axonal neuropathy
- Personality changes
- Psychotic mentation
- Stuttering
- Underdevelopment of part of brain called corpus callosum
Laboratory abnormality
- Higher than normal levels of lactate in blood
- Increased lactate in body
- Diabetes mellitus
- Increased CSF lactate
- Increased CSF protein concentration
- Fever
- High urine protein levels
- Noninsulin-dependent diabetes
Show 2 more traits
External links
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- 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-TH gene: mitochondrially encoded tRNA-His (CAU/C). Retrieved 16 October 2026, from https://dantelabs.com/genes/mt-th
Dante Labs. MT-TH gene: mitochondrially encoded tRNA-His (CAU/C) [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mt-th
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