Official Full Name
optic atrophy 1 (autosomal dominant)
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.
OPA1; optic atrophy 1 (autosomal dominant); dynamin-like 120 kDa protein, mitochondrial; dynamin like guanosine triphosphatase; FLJ12460; KIAA0567; MGM1; mitochondrial dynamin like GTPase; NPG; NTG; optic atrophy protein 1; mitochondrial dynamin-like GTPa; optic atrophy protein 1 homolog; fk62d06; zgc:92092; wu:fb77a10; wu:fk62d06