{"symbol":"NEFH","synonyms":["CMT2CC","NFH"],"name":"neurofilament, heavy polypeptide","description":"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]","ncbiEntrezGeneId":4744,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4744","proteins":[{"symbol":"NFH_HUMAN","href":"/api/1.0/protein/NFH_HUMAN"}],"hgncRootFamilies":[{"name":"Intermediate filaments","href":"/api/1.0/gene_family/Intermediate+filaments"}]}