Synonyms: 68 kDa neurofilament protein,68 kDa neurofilament protein,CMT1F,CMT2E,FLJ53642,Light molecular weight neurofilament protein,NEFL,Neurofilament light,Neurofilament light polypeptide 68 kDa,Neurofilament light polypeptide,Neurofilament protein,light chain,Neurofilament subunit NF L,Neurofilament triplet L protein,NF-L,NF68,NFL,NFL
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.