Aliases for NEFH Gene
External Ids for NEFH Gene
Previous GeneCards Identifiers for NEFH 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 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. [provided by RefSeq, Oct 2008]
GeneCards Summary for NEFH Gene
NEFH (Neurofilament Heavy) is a Protein Coding gene. Diseases associated with NEFH include Charcot-Marie-Tooth Disease Axonal Type 2Cc and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Neuroscience and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is NEFM.
UniProtKB/Swiss-Prot for NEFH Gene
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.