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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.
Gene Name: | neurofilament, light polypeptide |
Synonyms: | NEFL, 68 kDa neurofilament protein, CMT1F, CMT2E, NF68, NF-L, NFL, Neurofilament subunit NF-L, PPP1R110, Neurofilament light polypeptide, CMTDIG |
Target Sequences: | NM_006158 NP_006149.2 P07196 |
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