Dynamin-Like 120 Kda Protein, Mitochondrial (OPA1) Human Recombinant Protein

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, Mar 2009]

OPA1: a dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. Defects in OPA1 are the cause of optic atrophy 1 and deafness. Eight splice-variant isoforms have been described.

Protein type: Membrane protein, integral; Apoptosis; EC 3.6.5.5; Hydrolase; Mitochondrial

Chromosomal Location of Human Ortholog: 3q29

Cellular Component: nucleoplasm; mitochondrial crista; mitochondrial outer membrane; membrane; mitochondrion; mitochondrial inner membrane; cytoplasm; dendrite; integral to membrane; mitochondrial intermembrane space

Molecular Function: GTPase activity; protein binding; GTP binding; magnesium ion binding

Biological Process: inner mitochondrial membrane organization and biogenesis; mitochondrial fission; mitochondrion organization and biogenesis; mitochondrial genome maintenance; axon transport of mitochondrion; visual perception; mitochondrial fusion; metabolic process; apoptosis; neural tube closure

Disease: Glaucoma, Normal Tension, Susceptibility To; Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy; Optic Atrophy 1