Description
Product Characteristics: 68 kDa neurofilament protein, Light molecular weight neurofilament protein, NEFL, Neurofilament light polypeptide 68 kDa, Neurofilament light polypeptide, Neurofilament protein, light chain, Neurofilament subunit NF-L, Neurofilament triplet L protein, NF-L, NF68,Neurofilament (NF-L) (Neuronal Marker)
Cellular localisation: Cytoplasmic
Target Information: 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]