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 medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Diseases associated with NEFM include Pineal Parenchymal Tumor Of Intermediate Differentiation and Wallerian Degeneration. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton.
160 kDa neurofilament protein; 200 kDa neurofilament protein; 68 kDa neurofilament protein; light molecular weight neurofilament protein; Neurofilament 3; Neurofilament heavy polypeptide; Neurofilament light polypeptide; Neurofilament medium polypeptide; neurofilament protein, light chain; neurofilament subunit NF-L; Neurofilament triplet H protein; Neurofilament triplet L protein; Neurofilament triplet M protein; neurofilament, heavy polypeptide 200kDa; neurofilament, light polypeptide 68kDa; neurofilament, medium polypeptide 150kDa; neurofilament-3 (150 kD medium); NF-H; NF-L; NF-M; protein phosphatase 1, regulatory subunit 110; RNA5-8N2