| Entrez gene ID | | 4976 |
| Official gene symbol | | OPA1 |
| Full name | | optic atrophy 1 (autosomal dominant) |
| Aliases | | ,FLJ12460,KIAA0567,MGM1,NPG,NTG,largeG, |
| Gene summary | | This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
| Location | | Chromosome: 3 Locus: 3q28-q29|3q28-q29 |
| Gene position | | 193310933 - 193415600 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 104668 bp |
| Gene sequence |
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| OMIM ID | | 605290 |