NEFH, Official Symbol NEFHprovided by HGNC Official Full Name neurofilament heavy chainprovided by HGNC Primary source HGNC:HGNC:7737 See related Ensembl:ENSG00000100285 MIM:162230; AllianceGenome:HGNC:7737 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NFH; CMT2CC Summary 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] Expression Biased expression in prostate (RPKM 140.1), brain (RPKM 16.4) and 2 other tissues See more Orthologs mouse all