OPA1 Mitochondrial Dynamin-Like GTPase

Alternative Names

  • OPA1
  • OPA1 Gene
  • Kiaa0567
  • Dynamin-Like 120-Kd Protein, Mitochondrial

Associated Diseases

Optic Atrophy 1
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OMIM Number

605290

NCBI Gene ID

4976

Uniprot ID

O60313

Length

104,604 bases

No. of Exons

34

No. of isoforms

6

Protein Name

Dynamin-like 120 kDa protein, mitochondrial

Molecular Mass

111631 Da

Amino Acid Count

960

Genomic Location

chr3:193,593,208-193,697,811

Gene Map Locus
3q29

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_130837.3:c.1189A>GUnited Arab EmiratesNC_000003.12:g.193642804A>GUncertain SignificanceLikely PathogenicOptic Atrophy 1NG_011605.1:g.54661A>G; NM_130837.3:c.1189A>G; NP_570850.2:p.Lys397Glu1057517999372816
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