Synonyms: Dynamin like 120 kDa protein,Dynamin like 120 kDa protein, mitochondrial,Dynamin-like 120 kDa protein, form S1,FLJ12460,Juvenile kjer type optic atrophy,KIAA0567,KJER type,Large GTP binding protein,largeG,MGM1,Mitochondrial dynamin like 120 kDa protein,Mitochondrial dynamin like GTPase,NPG,NTG,OAK,OPA 1,opa1,OPA1 gene,OPA1,Optic atrophy 1 (autosomal dominant),OPTIC ATROPHY 1,Optic atrophy 1 gene protein,Optic atrophy 1 homolog (human),Optic atrophy protein 1,Optic atrophy protein 1 homolog
Background: 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.