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NF-L / NEFL
neurofilament, light polypeptide
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 |
Publications (5)
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