Gene
MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
- HGNC 7458(opens in a new tab)
- Ensembl gene ENSG00000198840(opens in a new tab)
- NCBI Gene 4537(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- ND3, NAD3
- Previous symbols
- MTND3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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-ND3
4
positions in MT-ND3 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-ND3
The Human Phenotype Ontology lists these as features of the rare conditions MT-ND3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Encephalopathy
- Focal T2 hyperintense brainstem lesion
- Global developmental delay
- Lethargy
- Leukodystrophy
- Leukoencephalopathy
- Poor eye contact
Show 18 more traits
- Chorea
- Disorder of involuntary muscle movements
- Dystonia
- Epilepsy
- Focal T2 hyperintense basal ganglia lesion
- Generalized myoclonic seizure
- Grand mal seizures
- Inability to coordinate movements when walking
- Nerve damage causing decreased feeling and movement
- Severe global developmental delay
- Abnormal prosody
- Bulbar signs
- Decreased reflex response
- Demyelinating peripheral neuropathy
- Increased reflexes
- Infantile spasms
- Loss of developmental milestones
- Segmental peripheral demyelination/remyelination
Abnormality of the eye
- Cross-eyed
- Damaged optic nerve
- Drooping upper eyelid
- Involuntary, rapid, rhythmic eye movements
- Optic disc pallor
- Paroxysmal involuntary eye movements
- Pigmentary retinopathy
- Weakness of muscles controlling eye movement
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-ND3 gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/mt-nd3
Dante Labs. MT-ND3 gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mt-nd3
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