| 别名 | Dynamin-like 120 kDa protein, mitochondrial (Optic atrophy protein 1) |
| 基因名称 | Endogenous |
| 蛋白名称 | OPA1 KIAA0567 |
| 推荐应用 | |
| 反应物种 | OPA1 |
| 存储缓冲液 | IHC 1:1000-1:4000;WB 1:10000-1:50000;IF 1:200-1:1000;ELISA 1:5000-1:20000; |
| Human Swissprot No. | 4976 |
| Mouse Gene ID | O60313 |
| Rat Swissprot No. | Q2TA68 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 112kD |
| 预测分子量 | WB,IHC,IF,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 80kD |
| 同种型 | Rabbit |
| 背景介绍 | 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], |
| 细胞定位 | Mitochondrion inner membrane ; Single-pass membrane protein . Mitochondrion intermembrane space . Mitochondrion membrane . Detected at contact sites between endoplasmic reticulum and mitochondrion membranes. . |
| 功能 | Disease: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.,Disease:Defects in OPA1 are the cause of optic atrophy 1 and deafness [MIM:125250]. Some individuals with mutations in OPA1 manifest also ophthalmoplegia and myopathy.,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.,PTM:PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion.,similarity:Belongs to the dynamin family.,subunit:Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Binds PARL.,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., |
| 纯化 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Clonality | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 修饰类型 | IgG,Kappa |
| 细胞定位 | Mitochondrion inner membrane ; Single-pass membrane protein . Mitochondrion intermembrane space . Mitochondrion membrane . Detected at contact sites between endoplasmic reticulum and mitochondrion membranes. . |
| 组织表达 | 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. |
| 研究领域 | >>Spinocerebellar ataxia |
周一至周日 8:00-18:00
