Gene Symbol | NEFL |
Entrez Gene ID | 4747 |
Full Name | neurofilament light |
Synonyms | CMT1F,CMT2E,NF-L,NF68,NFL,PPP1R110 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 2E, 607684 (3); Charcot-Marie-Tooth disease, type 1F, 607734 (3) |