| 别名 | MFN2;CPRP1;KIAA0214;Mitofusin-2;Transmembrane GTPase MFN2 |
| 基因名称 | Mfn2 |
| 蛋白名称 | Mitofusin-2 |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat, |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 9927 |
| Human Swissprot No. | O95140 |
| Mouse Gene ID | 170731 |
| Mouse Swissprot No. | Q80U63 |
| Rat Swissprot No. | Q8R500 |
| 特异性 | endogenous |
| 稀释度 | WB 1:1000-1:2500； |
| 参考分子量 | MW(Observed):86kD |
| 预测分子量 | MW(Calculated):86kD |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008], |
| 细胞定位 | Mitochondrion outer membrane |
| 功能 | Catalytic activity:GTP + H(2)O = GDP + phosphate.,Disease:Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]. CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.,Disease:Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]; also referred to as autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal CMT associated with optic atrophy.,Function:Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation.,similarity:Belongs to the mitofusin family.,subcellular location:Colocalizes with BAX during apoptosis.,subunit:Forms homomultimers and heteromultimers with MFN2. Oligomerization, which is probably mediated by the coiled coil region, may play an essential role in mitochondrion fusion.,tissue specificity:Ubiquitous; expressed at low level. Highly expressed in heart and kidney., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | Mitochondrion outer membrane |
| 组织表达 | Ubiquitous; expressed at low level. Highly expressed in heart and kidney. |
| 研究领域 | >>Mitophagy - animal;>>NOD-like receptor signaling pathway;>>Parkinson disease;>>Pathways of neurodegeneration - multiple diseases |
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