Protein Name | neurofilament light chain |
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Organism | Homo sapiens |
Gene ID | 4747 |
Gene Symbol | NEFL |
UniProt | P07196 (NFL_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
212
Total Number of Articles : 186 |
Description |
neurofilament light chain |
Gene Summary |
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] |
synonyms |
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