Protein Name neurofilament light chain
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
  • neurofilament light polypeptide
  • light molecular weight neurofilament protein
  • neurofilament protein, light chain
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Properties