Neurofilament 200, also known as neurofilament heavy polypeptide (NEFH), is encoded by the gene mapped to human chromosome 22q12.2. The encoded protein has a molecular mass of 200kDa and belongs to the group of type IV intermediate filaments which are key constituents of the neuronal cytoskeleton. NEFH contains C-terminal motifs involved in the formation of sidearm projections which cross-link the neurofilaments.
Neurofilament 200 plays a vital role in cytoarchitecture organization. Downregulated expression of the gene has been observed in schizophrenia patients. Loss of gene expression is associated with the development of prostate carcinoma. Mutation in the gene leads to sporadic amyotrophic lateral sclerosis (ALS). Neurofilament 200 assembly during development is critical for normal functioning of neuronal cells. Mutations in gene encoding neurofilaments is associated with neurological disorder called the Charcot–Marie–Tooth.
