Gene
MT-ATP8
mitochondrially encoded ATP synthase membrane subunit 8
- HGNC 7415↗(opens in a new tab)
- Ensembl gene ENSG00000228253↗(opens in a new tab)
- NCBI Gene 4509↗(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- ATP8, A6L, URFA6L
- Previous symbols
- MTATP8
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads MT-ATP8 yet. The test sequences your whole genome, so your data includes it all the same.
How a genome test reads MT-ATP8
1
position in MT-ATP8 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-ATP8
The Human Phenotype Ontology lists these as features of the rare conditions MT-ATP8 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Pigmentary retinopathy
- Progressive external ophthalmoplegia
- Drooping upper eyelid
- Blindness
- Clouding of the lens of the eye
- Cross-eyed
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
Show 2 more traits
Abnormality of the musculoskeletal system
- EMG abnormality
- Low muscle tone
- Muscle degeneration
- Muscle weakness
- Progressive intervertebral space narrowing
- Ragged-red muscle fibers
- Delayed bone maturation
- Neck muscle weakness
Show 1 more trait
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-ATP8 gene: mitochondrially encoded ATP synthase membrane subunit 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/mt-atp8
Dante Labs. MT-ATP8 gene: mitochondrially encoded ATP synthase membrane subunit 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mt-atp8
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