Gene
MT-CO1
mitochondrially encoded cytochrome c oxidase I
- HGNC 7419(opens in a new tab)
- Ensembl gene ENSG00000198804(opens in a new tab)
- NCBI Gene 4512(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- COX1, COI
- Previous symbols
- MTCO1
- 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.
Read MT-CO1, 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
No Genome Test report reads MT-CO1 yet. The test sequences your whole genome, so your data includes it all the same.
How a genome test reads MT-CO1
1
position in MT-CO1 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-CO1
The Human Phenotype Ontology lists these as features of the rare conditions MT-CO1 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 36 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
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-CO1 gene: mitochondrially encoded cytochrome c oxidase I. Retrieved 16 October 2026, from https://dantelabs.com/genes/mt-co1
Dante Labs. MT-CO1 gene: mitochondrially encoded cytochrome c oxidase I [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mt-co1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks