Protein Name | neurofilament heavy chain |
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Organism | Homo sapiens |
Gene ID | 4744 |
Gene Symbol | NEFH |
UniProt | P12036 (NFH_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
103
Total Number of Articles : 105 |
Description |
neurofilament heavy chain |
Gene 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] |
synonyms |
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Properties | |