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 |
| |
OMIM ID | | 605290 |