Neurofilament Light Poly (NEFL) ELISA Kit for Human

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]

NFL: one of the three (L, M, and H) intermediate filament proteins that form neurofilaments. Neurofilaments are involved in the maintenance of neuronal caliber. NF-L is the most abundant of the three neurofilament proteins. Defects cause Charcot-Marie-Tooth disease type 1F (CMT1F).

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 8p21

Cellular Component: axon; cytoplasm; cytosol; growth cone; myelin sheath; neurofilament; TSC1-TSC2 complex

Molecular Function: identical protein binding; phospholipase binding; protein binding; protein binding, bridging; protein C-terminus binding; protein domain specific binding; protein heterodimerization activity; structural constituent of cytoskeleton

Biological Process: activation of MAPKK activity; anterograde axon cargo transport; axon guidance; axon regeneration in the peripheral nervous system; axon transport of mitochondrion; cerebral cortex development; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; hippocampus development; innate immune response; insulin receptor signaling pathway; intermediate filament organization; intermediate filament polymerization and/or depolymerization; MAPKKK cascade; microtubule cytoskeleton organization and biogenesis; negative regulation of neuron apoptosis; nerve growth factor receptor signaling pathway; neurofilament bundle assembly; neuromuscular process controlling balance; positive regulation of axonogenesis; protein polymerization; Ras protein signal transduction; regulation of axon diameter; response to corticosterone stimulus; response to toxin; retrograde axon cargo transport; small GTPase mediated signal transduction; spinal cord development; synaptic transmission; vascular endothelial growth factor receptor signaling pathway

Disease: Charcot-marie-tooth Disease, Axonal, Type 2e; Charcot-marie-tooth Disease, Demyelinating, Type 1f