Enables identical protein binding activity. A structural constituent of cytoskeleton. Involved in axonal transport and neurofilament bundle assembly. Located in axon and neurofilament. Implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Biomarker of several diseases, including Lewy body dementia; autoimmune disease (multiple); demyelinating disease (multiple); neurodegenerative disease (multiple); and prion disease (multiple).
RGD Description
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]