NEFH,also named as KIAA0845 and NFH,Belongs to the intermediate filament family. It has an important function in mature axons that is not subserved by the two smaller NF proteins. Neurofilaments are the 10nm intermediate filaments found specifically in neurons. They are a major component of the cell's cytoskeleton,and provide support for normal axonal radial growth. Neurofilaments usually contain three intermediate filament proteins: L,M,and H which are involved in the maintenance of neuronal caliber. The names given to the three major neurofilament subunits are based upon the apparent molecular weight of the mammalian subunits on SDS-PAGE:NF-L,65-68kd; NF-M,145-160kd and NF-H,200-220kd. This antibody recognize NEFH only.
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene.
A synthesized peptide derived from human NEFL, corresponding to a region within N-terminal amino acids.
Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks.
Neurofilaments usually contain three intermediate filament proteins: NEFL,NEFM,and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks.
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.
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