NEFL

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolNEFL
Nameneurofilament light chain
Typeprotein-coding
Sourcemygene

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 disti

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