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NEFH neurofilament heavy

Also known as: NFH; CMT2CC

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. [provided by RefSeq, Oct 2008]

Genomic context

Location:
22q12.2
Sequence:
Chromosome: 22; NC_000022.11 (29480192..29491290)
Total number of exons:
4

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