Entrez gene ID | | 4747 |
Official gene symbol | | NEFL |
Full name | | neurofilament, light polypeptide |
Aliases | | ,CMT1F,CMT2E,FLJ53642,NF-L,NF68,NFL, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 8 Locus: 8p21 |
Gene position | | 24814131 - 24808468 Map Viewer |
Gene orientation | | minus |
Gene size | | 5664 bp |
Gene sequence |
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OMIM ID | | 162280 |
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