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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.
Gene Name: | neurofilament, heavy polypeptide |
Synonyms: | NEFH, 200 kDa neurofilament protein, KIAA0845, NFH, NF-H |
Target Sequences: | NM_021076 NP_066554.2 P12036 |
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