neurofilament light polypeptide neurofilament light polypeptide neurofilament light polypeptide, also known as neurofilament light chain, abbreviated to nf-l or nfl and with the hgnc name nefl is a member of the intermediate filament protein family. this protein family consists of over 50 human proteins divided into 5 major classes, the class i and ii keratins, class iii vimentin, gfap, desmin and the others, the class iv neurofilaments and the class v nuclear lamins. there are four major neurofilament subunits, nf-l, nf-m, nf-h and α-internexin. these form heteropolymers which assemble to produce 10nm neurofilaments which are only expressed in neurons where they are major structural proteins, particularly concentrated in large projection axons. axons are particularly sensitive to mechanical and metabolic compromise and as a result axonal degeneration is a significant problem in many neurological disorders. the detection of neurofilament subunits in csf and blood has therefore become widely used as a biomarker of ongoing axonal compromise. the nf-l protein is encoded by the nefl gene. neurofilament light chain is a biomarker that can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in a wide variety of neurological disorders. it is a useful marker for disease monitoring in amyotrophic lateral sclerosis, multiple sclerosis, alzheimer's disease, and more recently huntington's disease. it is also promising marker for follow-up of patients with brain tumors. higher levels of blood or csf nf-l have been associated with increased mortality, as would be expected as release of this protein reflects ongoing axonal loss. recent work performed as a collaboration between encor biotechnology inc. and the university of florida showed that the nf-l antibodies employed in the most widely used nf-l assays are specific for cleaved forms of nf-l generated by proteolysis induced by cell death. neflidentifiersaliasesnefl, cmt1f, cmt2e, nf-l, nf68, nfl, ppp1r110, neurofilament, light polypeptide, neurofilament light, cmtdig, neurofilament light chainexternal idsomim: 162280 mgi: 97313 homologene: 4487 genecards: nefl gene location (human)chr.chromosome 8 (human)band8p21.2start24,950,955 bpend24,956,721 bpgene location (mouse)chr.chromosome 14 (mouse)band14|14 d1start68,321,312 bpend68,326,544 bprna expression patternbgeehumanmouse (ortholog)top expressed inspinal gangliaponsendothelial cellsuperior vestibular nucleusbrodmann area 23orbitofrontal cortexmiddle temporal gyrusfrontal polesuperior frontal gyrusparietal lobetop expressed inmotor neuronfacial motor nucleusanterior horn of spinal cordsuperior cervical ganglionmedial vestibular nucleuspontine nucleitrigeminal gangliondorsal tegmental nucleussubstantia nigraneural tubemore reference expression databiogpsmore reference expression datagene ontologymolecular function protein-macromolecule adaptor activity structural molecule activity structural constituent of cytoskeleton protein c-terminus binding protein binding identical protein binding protein heterodimerization activity protein domain specific binding phospholipase binding structural constituent of postsynaptic intermediate filament cytoskeleton cellular component cytoplasm cytosol neurofilament growth cone myelin sheath tsc1-tsc2 complex axon neuron projection intermediate filament axon cytoplasm neuromuscular junction schaffer collateral - ca1 synapse cholinergic synapse postsynaptic intermediate filament cytoskeleton presynaptic intermediate filament cytoskeleton biological process negative regulation of neuron apoptotic process retrograde axonal transport intermediate filament organization response to sodium arsenite neuron projection morphogenesis protein polymerization intermediate filament bundle assembly neuromuscular process controlling balance neurofilament bundle assembly response to corticosterone response to peptide hormone response to organic substance positive regulation of axonogenesis mapk cascade anterograde axonal transport axonal transport of mitochondrion regulation of axon diameter peripheral nervous system axon regeneration locomotion response to acrylamide spinal cord development cerebral cortex development intermediate filament polymerization or depolymerization neurofilament cytoskeleton organization hippocampus development response to toxic substance microtubule cytoskeleton organization axon development synapse maturation postsynaptic intermediate filament cytoskeleton organization regulation of nmda receptor activity sources:amigo / quickgoorthologsspecieshumanmouseentrez474718039ensemblensg00000277586ensmusg00000022055uniprotp07196p08551refseq (mrna)nm_006158nm_010910refseq (protein)np_006149np_035040location (ucsc)chr 8: 24.95 – 24.96 mbchr 14: 68.32 – 68.33 mbpubmed searchwikidataview/edit humanview/edit mouse neurofilament assembly and structure rat brain cells grown in tissue culture and stained, in green, with an antibody to neurofilament subunit nf-l, which reveals a large neuron. the culture was stained in red for α-internexin, which in this culture is found in neuronal stem cells surrounding the large neuron. image courtesy of encor biotechnology inc. a formalin fixed and paraffin embedded section of human cerebellum stained with an antibody to nf-l revealed with a brown dye, cell nuclei are revealed with a blue dye. nuclear rich region at left is granular layer, region at right is molecular layer. the antibody binds processes of basket cells, parallel fiber axons, the perikarya of purkinje cells and various othe axons. image courtesy of encor biotechnology inc. it is associated with charcot–marie–tooth disease 1f and 2e. interactions neurofilament light polypeptide has been shown to interact with: map2, protein kinase n1, and tsc1.