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Official Full Name: neurofilament light chain
Also known as: NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110
Neurofilaments are heteropolymers of type IV intermediate filaments composed of light, medium, and heavy chains. Neurofilaments constitute the axis bone and functionally maintain the diameter of the neuron. They may also play a role in intracellular trafficking 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), peripheral nervous system disorders characterized by distinct neuropathies. A pseudogene was found on the Y chromosome.