Description
Product Characteristics: FUNCTION: 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 a cause of optic atrophy type 1 (OPA1). OPA1 is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to legal blindness. Defects in OPA1 are the cause of optic atrophy 1 with deafness. Some individuals with mutations in OPA1 manifest also ophthalmoplegia and myopathy. SUBCELLULAR LOCATION: Mitochondrion inner membrane, Single-pass membrane protein. Mitochondrion intermembrane space TISSUE SPECIFICITY: Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues.,Vision,Dynamin-like 120 kDa protein, mitochondrial, Optic atrophy protein 1, Dynamin-like 120 kDa protein, form S1
Target Information: 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]