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nefh

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Official Full Name
neurofilament, heavy polypeptide
Background
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.
Synonyms
NEFH; neurofilament, heavy polypeptide; neurofilament heavy polypeptide; NF-H; 200 kDa neurofilament protein; neurofilament triplet H protein; Nfh

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