Aliases for NEFL Gene
External Ids for NEFL Gene
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]
GeneCards Summary for NEFL Gene
NEFL (Neurofilament, Light Polypeptide) is a Protein Coding gene. Diseases associated with NEFL include charcot-marie-tooth neuropathy type 2e/1f and severe early-onset axonal neuropathy due to nefl deficiency. Among its related pathways are Cytoskeletal Signaling and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and structural constituent of cytoskeleton.
UniProtKB/Swiss-Prot for NEFL Gene
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber