Function
Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks.
Biological Context
Subcellular Location: Cytoplasm, cytoskeleton; Cell projection, axon
Disease Association: Amyotrophic lateral sclerosis (ALS) : A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [Disease susceptibility is associated with variants affecting the gene represented in this entry] | Charcot-Marie-Tooth disease, axonal, type 2CC (CMT2CC) : An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Neurofilament heavy polypeptide (NEFH), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-413aa, with N-terminal 10xHis-SUMO-tagged and C-terminal Myc-tagged tag, molecular weight 65.6kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
