Optic Atrophy 1, Autosomal Dominant (OPA1)

Dynamin-like 120 kDa protein, mitochondrial 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. Eight transcript variants encoding different isoforms, resulting from alternative splicing of exon 4 and two novel exons named 4b and 5b, have been reported for this gene.OPA1 is a major organizer of the mitochondrial inner membrane and is required for the maintenance of cristae integrity.OPA1 is involved in the sequestration of cytochrome c, and that OPA1 may be a target for mitochondrial apoptotic effectors.