OPA1 Chromosome 3
OPA1 mitochondrial dynamin like GTPase
Upload your DNA to see your personal genotypes for variants in OPA1.
What This Gene Does
The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Dynamin superfamily
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000198836
Associated Conditions (33)
Optic atrophy with or without deafness
ophthalmoplegia
myopathy
ataxia
and neuropathy
Autosomal dominant optic atrophy classic form
Inborn genetic diseases
Abortive cerebellar ataxia
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Glaucoma
normal tension
susceptibility to
Optic nerve hypoplasia
OPA1-related disorder
Optic atrophy
Childhood onset hearing loss
Auditory neuropathy spectrum disorder
Retinal dystrophy
Abnormal brain morphology
Auditory neuropathy
+13 more conditions
Key Variants
RS1131691832
Conflicting classifications of pathogenicity
Health Risk
RS114157340
Conflicting classifications of pathogenicity
Health Risk
RS1160551128
Conflicting classifications of pathogenicity
Optic atrophy with or without deafness, ophthalmoplegia, myopathy
Health Risk
RS117475774
Conflicting classifications of pathogenicity
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
Health Risk
RS1294430125
Conflicting classifications of pathogenicity
Health Risk
RS138114609
Conflicting classifications of pathogenicity
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
Health Risk
RS139106405
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139934030
Conflicting classifications of pathogenicity
Health Risk
RS142694017
Conflicting classifications of pathogenicity
Health Risk
RS143252541
Conflicting classifications of pathogenicity
Abortive cerebellar ataxia, Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), Optic atrophy with or without deafness
Health Risk
RS143319805
Conflicting classifications of pathogenicity
Autosomal dominant optic atrophy classic form, Abortive cerebellar ataxia, Optic nerve hypoplasia
Health Risk
RS143929819
Conflicting classifications of pathogenicity
Health Risk
All Variants (348)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2474862722 | Health Risk | Pathogenic | — |
| RS2474872099 | Health Risk | Pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS2474873974 | Health Risk | Pathogenic | — |
| RS2474874628 | Health Risk | Pathogenic | — |
| RS2474874709 | Health Risk | Pathogenic | — |
| RS2474881142 | Health Risk | Pathogenic | — |
| RS2474881420 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy |
| RS2474882050 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2474882131 | Health Risk | Pathogenic | — |
| RS2474904757 | Health Risk | Pathogenic | — |
| RS2474921607 | Health Risk | Pathogenic | — |
| RS2474922047 | Health Risk | Pathogenic | — |
| RS2474933339 | Health Risk | Pathogenic | — |
| RS2475017049 | Health Risk | Pathogenic | — |
| RS2475017130 | Health Risk | Pathogenic | — |
| RS2475018588 | Health Risk | Pathogenic | — |
| RS2475051035 | Health Risk | Pathogenic | OPA1-related disorder, OPA1-related disorder |
| RS2475079378 | Health Risk | Pathogenic | — |
| RS2475133808 | Health Risk | Pathogenic | — |
| RS2475134399 | Health Risk | Pathogenic | — |
| RS2475134740 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475135115 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy |
| RS2475165521 | Health Risk | Pathogenic | — |
| RS2475166131 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475166808 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475190532 | Health Risk | Pathogenic | Dominant hereditary optic atrophy, Dominant hereditary optic atrophy |
| RS2475190695 | Health Risk | Pathogenic | — |
| RS2475205892 | Health Risk | Pathogenic | — |
| RS2475206793 | Health Risk | Pathogenic | — |
| RS2475207285 | Health Risk | Pathogenic | — |
| RS28939082 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS376643015 | Health Risk | Pathogenic | — |
| RS387906900 | Health Risk | Pathogenic | Optic atrophy with or without deafness, ophthalmoplegia, myopathy |
| RS387906901 | Health Risk | Pathogenic | Optic atrophy with or without deafness, ophthalmoplegia, myopathy |
| RS398124297 | Health Risk | Pathogenic | — |
| RS398124298 | Health Risk | Pathogenic | Optic atrophy with or without deafness, ophthalmoplegia, myopathy |
| RS398124299 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy |
| RS398124301 | Health Risk | Pathogenic | — |
| RS398124303 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Optic atrophy with or without deafness, ophthalmoplegia |
| RS727504058 | Health Risk | Pathogenic | — |
| RS727504059 | Health Risk | Pathogenic | Ocular impairment, Ocular impairment |
| RS727504060 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy |
| RS745927258 | Health Risk | Pathogenic | — |
| RS748215343 | Health Risk | Pathogenic | — |
| RS761743852 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Optic atrophy, Autosomal dominant optic atrophy classic form |
| RS771512430 | Health Risk | Pathogenic | — |
| RS772382178 | Health Risk | Pathogenic | Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS794727289 | Health Risk | Pathogenic | — |
| RS794727345 | Health Risk | Pathogenic | — |
| RS794727392 | Health Risk | Pathogenic | OPA1-related disorder, Inborn genetic diseases, Optic atrophy |