• Target：
• NF-L

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

• Gene Name：
• NEFL NF68 NFL

• Protein Name：
• Neurofilament

• Human Gene Id：
• 4747

• Human Swiss Prot No：
• P07196

• Immunogen：
• Synthesized peptide derived from human Neurofilament AA range: 400-543

• Specificity：
• The antibody can specifically recognize human Neurofilament protein, especilaly NF-L protein.

• Source：
• Mouse, Monoclonal/IgG2b, kappa

• Purification：
• The antibody was affinity-purified from ascites by affinity-chromatography using specific immunogen.

• Storage Stability：
• 2°C to 8°C/1 year

• Other Name：
• Neurofilament light polypeptide (NF-L;68 kDa neurofilament protein;Neurofilament triplet L protein)

• Background：
• 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],

• Function：
• 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 charac

• Subcellular Location：
• Cytoplasmic

• Expression：
• Cytoplasmic

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