Aliases for NEFM Gene
External Ids for NEFM Gene
Previous HGNC Symbols for NEFM Gene
Previous GeneCards Identifiers for NEFM Gene
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]
GeneCards Summary for NEFM Gene
NEFM (Neurofilament Medium) is a Protein Coding gene. Diseases associated with NEFM include Charcot-Marie-Tooth Disease, Axonal, Type 2Cc and Charcot-Marie-Tooth Disease, Demyelinating, Type 1F. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Neuroscience. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is NEFL.
UniProtKB/Swiss-Prot Summary for NEFM Gene
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.