Entrez gene ID | | 80207 |
Official gene symbol | | OPA3 |
Full name | | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
Aliases | | ,FLJ22187,FLJ25932,MGA3,MGC75494, |
Gene summary | | The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.32 |
Gene position | | 46088122 - 46031025 Map Viewer |
Gene orientation | | minus |
Gene size | | 57098 bp |
Gene sequence |
| |
OMIM ID | | 606580 |