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]
Aliases : NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110
Entrez GeneID: 4747
Swissprot: P07196
WB Predicted band size: 61.5kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Mouse,Rat,Rabbit
Immunogen: Purified recombinant fragment of human NEFL (AA: 1-200) expressed in E. Coli.