• 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. [provided by RefSeq, Oct 2008]
  

NEFM (Neurofilament Medium Chain) is a Protein Coding gene. Diseases associated with NEFM include Charcot-Marie-Tooth Disease, Axonal, Type 2Cc and Charcot-Marie-Tooth Disease Type 1F. Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is INA.