Optic Atrophy 1, Autosomal Dominant (OPA1) Antibody – Rabbit Polyclonal

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; 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