| 别名 | NEFH;KIAA0845;NFH;Neurofilament heavy polypeptide;NF-H;200 kDa neurofilament protein;Neurofilament triplet H protein |
| 基因名称 | NEFH |
| 蛋白名称 | Neurofilament heavy polypeptide |
| 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 | 4744 |
| Human Swissprot No. | P12036 |
| Mouse Swissprot No. | P19246 |
| 特异性 | endogenous |
| 稀释度 | WB 1:1000-1:2500；ELISA 1:5000-1:20000 |
| 参考分子量 | MW(Observed):180-200kD |
| 预测分子量 | MW(Calculated):110kD |
| 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 | Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008], |
| 细胞定位 | Cytoplasm |
| 功能 | Disease:Defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors.,Function:Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.,online information:ALS genetic mutations db,polymorphism:The number of repeats is shown to vary between 29 and 30.,PTM:Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincident with a change in the neurofilament function.,PTM:There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.,similarity:Belongs to the intermediate filament family., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | Cytoplasm |
| 组织表达 | Brain,Eye,Testis, |
| 研究领域 | >>Amyotrophic lateral sclerosis;>>Pathways of neurodegeneration - multiple diseases |
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