OPA1 Antibody – Mouse Monoclonal

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. 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. [provided by RefSeq, Aug 2017]

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; Hydrolase; Mitochondrial; Apoptosis; EC 3.6.5.5

Chromosomal Location of Human Ortholog: 3q29

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

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

Biological Process: apoptosis; axon transport of mitochondrion; inner mitochondrial membrane organization and biogenesis; metabolic process; mitochondrial fission; mitochondrial fusion; mitochondrial genome maintenance; mitochondrion organization and biogenesis; positive regulation of neuron maturation; visual perception

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