NEFL, Official Symbol NEFLprovided by HGNC Official Full Name neurofilament light chainprovided by HGNC Primary source HGNC:HGNC:7739 See related Ensembl:ENSG00000277586 MIM:162280; AllianceGenome:HGNC:7739 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 NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110 Summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] Expression Biased expression in brain (RPKM 94.3) and adrenal (RPKM 9.8) See more Orthologs mouse all