General description
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.
Immunogen
Recombinant fusion protein containing a sequence corresponding to amino acids 400-543 of human NEFL (NP_006149.2).
Physical form
PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Storage and Stability
Store at -20℃. Avoid freeze / thaw cycles.
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