Gene
MT-CO3
mitochondrially encoded cytochrome c oxidase III
- HGNC 7422↗(opens in a new tab)
- Ensembl gene ENSG00000198938↗(opens in a new tab)
- NCBI Gene 4514↗(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- COX3, COIII, CO3
- Previous symbols
- MTCO3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads MT-CO3 yet. The test sequences your whole genome, so your data includes it all the same.
How a genome test reads MT-CO3
4
positions in MT-CO3 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-CO3
The Human Phenotype Ontology lists these as features of the rare conditions MT-CO3 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 38 more traits
- Anxiety
- Ataxia
- Depression
- Diminished deep tendon reflex
- 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
- Abnormal speech pattern
- 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
- Postural tremor
- Psychotic mentation
- Stuttering
- Underdevelopment of part of brain called corpus callosum
- Dystonia
- 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
- Progressive loss of vision
- Visual loss
Show 12 more traits
- Abnormal color vision
- Abnormal electroretinogram
- Abnormality of visual evoked potentials
- Pigmentary retinopathy
- Progressive external ophthalmoplegia
- Reduced contrast sensitivity
- Retinal nerve fiber edema
- Cerebral visual impairment
- Clouding of the lens of the eye at birth
- Eye muscle paralysis
- Hemianopia
- Leber optic atrophy
Laboratory abnormality
- Recurrent myoglobinuria
- Dark urine
- Fever
- Higher than normal levels of lactate in blood
- Highly elevated creatine kinase
- Increased lactate in body
- Abnormality of glycolipid metabolism
- Diabetes mellitus
Show 12 more traits
- Elevated circulating aldolase concentration
- Exercise-induced myoglobinuria
- High liver enzymes
- Increased circulating lactate dehydrogenase concentration
- Increased CSF lactate
- Increased CSF protein concentration
- High blood phosphate levels
- High urine protein levels
- Increased circulating potassium concentration
- Low blood calcium levels
- Noninsulin-dependent diabetes
- Type 1 diabetes
Abnormality of the musculoskeletal system
- Muscle weakness
- Ragged-red muscle fibers
- Basal ganglia calcification
- Muscle tissue disease
- Type 2 muscle fiber atrophy
- Viral infection-induced rhabdomyolysis
- Fatigable weakness of swallowing muscles
- Muscle spasm
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-CO3 gene: mitochondrially encoded cytochrome c oxidase III. Retrieved 17 October 2026, from https://dantelabs.com/genes/mt-co3
Dante Labs. MT-CO3 gene: mitochondrially encoded cytochrome c oxidase III [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mt-co3
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