Gene
MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
- HGNC 7459(opens in a new tab)
- Ensembl gene ENSG00000198886(opens in a new tab)
- NCBI Gene 4538(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- ND4, NAD4
- Previous symbols
- MTND4, LHON
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read MT-ND4, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Hereditary Optic Neuropathy
- Hereditary Optic Atrophy
Inherited loss of optic nerve fibres, most often autosomal dominant optic atrophy caused by changes in OPA1, and including rarer types caused by OPA3, DNM1L, SSBP1 and other genes.
- 1 GenCC submitter rates it definitive or strong
Broader groupings
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-ND4
3
positions in MT-ND4 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-ND4
The Human Phenotype Ontology lists these as features of the rare conditions MT-ND4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent/small cerebral white matter
- Dementia
- Difficulty finding words
- EEG abnormality
- Epilepsy
- Migraine
- Widened cerebral subarachnoid space
- Abnormal gait
Show 50 more traits
- Anxiety
- Ataxia
- Chorea
- Depression
- Disorder of involuntary muscle movements
- Dystonia
- Encephalopathy
- Fluctuations in consciousness
- Focal T2 hyperintense basal ganglia lesion
- Generalized myoclonic seizure
- 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
- Global developmental delay
- Increased reflexes
- Infantile spasms
- Loss of developmental milestones
- Mixed demyelinating and axonal polyneuropathy
- Motor delay
- Peripheral axonal neuropathy
- Personality changes
- Postural tremor
- Psychotic mentation
- Segmental peripheral demyelination/remyelination
- Stuttering
- Underdevelopment of part of brain called corpus callosum
- Peripheral nerve disease
Abnormality of the eye
- Slow decrease in sharpness of vision
- Blind spot located at fixation point
- Blurred vision
- Centrocecal scotoma
- Damaged optic nerve
- Optic atrophy
- Pigmentary retinopathy
- Progressive loss of vision
Show 11 more traits
- Visual loss
- Weakness of muscles controlling eye movement
- Abnormal color vision
- Abnormal electroretinogram
- Abnormality of visual evoked potentials
- Involuntary, rapid, rhythmic eye movements
- Progressive external ophthalmoplegia
- Reduced contrast sensitivity
- Retinal nerve fiber edema
- Rod-cone dystrophy
- Leber optic atrophy
Abnormality of the digestive system
- Episodic vomiting
- Vomiting
- Constipation
- Diarrhea
- Enlarged liver
- Gastrointestinal dysmotility
- Intestinal pseudo-obstruction
- Liver failure
Show 2 more traits
External links
Gene records
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-ND4 gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/mt-nd4
Dante Labs. MT-ND4 gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mt-nd4
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks