| 别名 | Neurofilament light polypeptide;NF-L;Neurofilament triplet L protein;68 kDa neurofilament protein; |
| 基因名称 | Endogenous |
| 蛋白名称 | NEFL NF68 NFL |
| 推荐应用 | |
| 反应物种 | NF-L |
| 存储缓冲液 | IHC 1:2000-1:10000;WB 1:2000-1:10000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200; |
| Human Gene Link | Neurofilament light polypeptide;NF-L;68 kDa neurofilament protein;Neurofilament triplet L protein; |
| Human Swissprot No. | 4747 |
| Mouse Gene ID | P07196 |
| Mouse Swissprot No. | 18039 |
| Rat Gene ID | 83613 |
| Rat Swissprot No. | P19527 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 62kD |
| 预测分子量 | WB,IHC,IF,IP,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 68kD |
| 同种型 | Rabbit |
| 背景介绍 | Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008], |
| 细胞定位 | Cytoplasmic |
| 功能 | Caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,Disease:Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]. CMT1F 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 CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years).,Disease:Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]. CMT2E is an autosomal dominant form of Charcot-Marie-Tooth disease type 2. 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.,Domain:The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions.,Function:Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.,miscellaneous:NF-L is the most abundant of the three neurofilament proteins and, as the other nonepithelial intermediate filament proteins, it can form homopolymeric 10-nm filaments.,PTM:O-glycosylated.,similarity:Belongs to the intermediate filament family.,subunit:Interacts with RGNEF., |
| 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 | Cytoplasmic |
| 组织表达 | brain, retina,Expressed in dorsal root ganglion and 159 other cell types or tissues, |
| 研究领域 | >>Amyotrophic lateral sclerosis;>>Pathways of neurodegeneration - multiple diseases |
周一至周日 8:00-18:00
