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.
Aliases: NFH; CMT2CC
Entrez GeneID: 4744
Swissprot : P12036
WB Predicted band size : 112.4kDa
Host/Isotype: Mouse IgG1
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human NEFH (AA: 2-251) expressed in E. Coli.
