Neurofilament (NF) ELISA Kit for Porcine

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: TSC1-TSC2 complex; growth cone; axon; cytoplasm; neurofilament; cytosol

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

Biological Process: protein polymerization; response to peptide hormone stimulus; neurofilament bundle assembly; response to toxin; intermediate filament organization; microtubule cytoskeleton organization and biogenesis; axon regeneration in the peripheral nervous system; retrograde axon cargo transport; synaptic transmission; axon transport of mitochondrion; regulation of axon diameter; positive regulation of axonogenesis; negative regulation of neuron apoptosis; neuromuscular process controlling balance; anterograde axon cargo transport; locomotion; neurite morphogenesis; response to corticosterone stimulus

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