The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
備考Protein concentration is above or equal to 0.05 mg/ml. Best used within three months from the date of receipt.
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Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.3% Glutathione, 0.79% Tris HCl
Dynamin like 120 kDa protein
Dynamin like 120 kDa protein, mitochondrial
Dynamin-like 120 kDa protein, form S1
Juvenile kjer type optic atrophy
Large GTP binding protein
Mitochondrial dynamin like 120 kDa protein
Mitochondrial dynamin like GTPase
OPTIC ATROPHY 1
Optic atrophy 1 (autosomal dominant)
Optic atrophy 1 gene protein
Optic atrophy 1 homolog (human)
Optic atrophy protein 1
Optic atrophy protein 1 homolog
機能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.
組織特異性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.
関連疾患Defects in OPA1 are a cause of optic atrophy type 1 (OPA1) [MIM:165500]. 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 (OPA1D) [MIM:125250]. Some individuals with mutations in OPA1 manifest also ophthalmoplegia and myopathy.
配列類似性Belongs to the dynamin family.
翻訳後修飾PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion.