Nefl - neurofilament, light polypeptide Gene

Also known as Nfl; NF-L; NF68; CMT2E

About Nefl

Summary

Enables protein-macromolecule adaptor activity. A structural constituent of postsynaptic intermediate filament Cytoskeleton. Involved in intermediate filament bundle assembly and synapse maturation. Acts upstream of or within several processes, including Cytoskeleton organization; generation of neurons; and regulation of axon diameter. Located in several cellular components, including cholinergic synapse; intermediate filament cytoskeleton; and neuromuscular junction. Is active in Schaffer collateral - CA1 synapse and postsynaptic intermediate filament Cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; limb; and peripheral nervous system ganglion. Used to study Charcot-Marie-Tooth disease type 2E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament LIGHT chain). [provided by Alliance of Genome Resources, Apr 2022]