| Gene Symbol |
NEFL
|
| Gene Synonyms |
NFL NF-L NF68 CMT1F CMT2E CMTDIG PPP1R110 |
| Gene Full Name |
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] |
| Molecular Weight(MW) |
62KD |
| Cellular Localization |
Cell projection, Cytoplasm, Cytoskeleton, Intermediate filament |