Gene
OPA1
OPA1 mitochondrial dynamin like GTPase
- HGNC 8140(opens in a new tab)
- Ensembl gene ENSG00000198836(opens in a new tab)
- NCBI Gene 4976(opens in a new tab)
Summary
- Cytogenetic location
- 3q29
- Coordinates
- Chromosome 3: 193,593,208–193,697,811 (GRCh38)
- Exons
- 31 exons across 104.6 kb
- Protein
- 1,015 amino acids
- Also known as
- NTG, KIAA0567, FLJ12460, NPG, MGM1
- MANE Select transcript
- ENST00000361510.8NM_130837.3
- 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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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.
- 3 GenCC submitters rate it definitive or strong
Primary Mitochondrial Disease
- Mitochondrial DNA Depletion Syndrome
Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.
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 moderate
How OPA1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.4 kb of the gene's 104.6 kb; 3,048 of those bases code for the protein.
How a genome test reads OPA1
99
positions in OPA1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 104.6 kb of OPA1, introns included, not only the 6.4 kb of exons.
Traits linked to OPA1
The Human Phenotype Ontology lists these as features of the rare conditions OPA1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Delayed ability to sit
- EEG with burst suppression
- Encephalopathy
- Epilepsy
- Global developmental delay
- Hyperactive movements
- Motor regression
Show 33 more traits
- Myoclonic status epilepticus
- Peripheral axonal neuropathy
- Peripheral neuropathy
- Profound global developmental delay
- Absent brainstem auditory responses
- Cerebellar vermis atrophy
- Degeneration of cerebellum
- Lack of coordination of movement
- Nerve damage causing decreased feeling and movement
- Sensory axonal neuropathy
- Abnormal gait
- Damage to nerves that sense feeling
- Difficulty articulating speech
- Instability or lack of coordination of central trunk muscles
- Motor axonal neuropathy
- Periventricular leukomalacia
- Tremor
- Unsteady walk
- Abnormal periventricular white matter morphology
- Absent reflexes
- Atrophy/Degeneration affecting the brainstem
- Cognitive impairment
- Corpus callosum atrophy
- Dementia
- Hallucinations
- Migraine
- Weakness of one side of body
- Abnormal auditory evoked potentials
- Babinski sign
- Increased reflexes
- Intellectual disability
- Motor delay
- Peripheral nerve disease
Abnormality of the eye
- Blind spot located at fixation point
- Color blindness
- Optic atrophy
- Visual fixation instability
- Visual impairment
- Progressive loss of vision
- Abnormal color vision
- Abnormal retinal nerve fiber layer morphology
Show 24 more traits
- Abnormality of visual evoked potentials
- Drooping of both upper eyelids
- Esodeviation
- Eye muscle paralysis
- Involuntary, rapid, rhythmic eye movements
- Moderate visual impairment
- Morning glory anomaly
- Optic disc pallor
- Progressive external ophthalmoplegia
- Retina degeneration
- Temporal optic disc pallor
- Blindness
- Cross-eyed
- Drooping upper eyelid
- Horizontal nystagmus
- Hypoplastic optic chiasm
- Limited peripheral vision
- Clouding of the lens of the eye
- Duane anomaly
- Abnormal amplitude of pattern reversal visual evoked potentials
- Blue yellow color blindness
- Centrocecal scotoma
- Decreased clarity of vision
- Red green color blindness
Abnormality of the musculoskeletal system
- Low muscle tone
- Lower limb spasticity
- Opisthotonus
- Poor head control
- Spastic tetraparesis
- Spasticity and rigidity of muscles
- EMG: impaired neuromuscular transmission
- Low muscle tone in trunk
Show 13 more traits
- Mitochondrial myopathy
- Muscle degeneration
- Muscle tissue disease
- Proximal neurogenic muscle weakness
- EMG: chronic denervation signs
- Frequent falls
- Involuntary muscle stiffness, contraction, or spasm
- Spastic paraplegia
- Basal ganglia calcification
- Adductor longus contractures
- Hamstring contractures
- Increased variability in muscle fiber diameter
- Progressive spasticity
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- 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.). OPA1 gene: OPA1 mitochondrial dynamin like GTPase. Retrieved 17 October 2026, from https://dantelabs.com/genes/opa1
Dante Labs. OPA1 gene: OPA1 mitochondrial dynamin like GTPase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/opa1
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