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.
Aliases: NFL; NF-L; NF68; CMT1F; CMT2E
Entrez GeneID: 4747
Swissprot: P07196
WB Predicted band size : 62kDa
Host/Isotype: Mouse IgG1
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human NEFL expressed in E. Coli.
