NEFH

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolNEFH
Nameneurofilament heavy chain
Typeprotein-coding
Sourcemygene

Summary

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provide

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