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nefl

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Official Full Name
neurofilament, light polypeptide
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.
Synonyms
NEFL; neurofilament, light polypeptide; neurofilament, light polypeptide 68kDa; neurofilament light polypeptide; CMT1F; CMT2E; NF68; NFL; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament protein, light chain; light molecular weig; light molecular weight neurofilament protein; NF-L; FLJ53642