• 靶点：
• NF-H

• 简介：
• >>Amyotrophic lateral sclerosis;>>Pathways of neurodegeneration - multiple diseases

• 基因名称：
• NEFH

• 蛋白名称：
• Neurofilament heavy polypeptide

• Human Gene Id：
• 4744

• Human Swiss Prot No：
• P12036

• Mouse Swiss Prot No：
• P19246

• 特异性：
• endogenous

• 组成：
• PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA

• 来源：
• Monoclonal, rabbit, IgG, Kappa

• 稀释：
• IHC 1:200-1:1000,WB 1:1000-1:5000,IF 1:200-1:1000,ELISA 1:5000-1:20000,IP 1:50-1:200,

• 纯化工艺：
• Protein A

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• NEFH;KIAA0845;NFH;Neurofilament heavy polypeptide;NF-H;200 kDa neurofilament protein;Neurofilament triplet H protein

• 分子量：
• 110kD

• 实测条带：
• 180200kD

• 背景：
• 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],

• 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 phosphor

• 细胞定位：
• Cytoplasm

• 组织表达：
• Brain,Eye,Testis,

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