| 621458 | Nefl | neurofilament light chain | ENCODES a protein that exhibits phospholipase binding; protein domain specific binding; protein-containing complex binding; INVOLVED IN cerebral cortex development; hippocampus development; intermediate filament polymerization or depolymerization; PARTICIPATES IN amyotrophic lateral sclerosis pathwa y; ASSOCIATED WITH congenital hypothyroidism; depressive disorder; Experimental Autoimmune Encephalomyelitis; FOUND IN axon; growth cone; neurofilament; INTERACTS WITH (-)-anisomycin; 1-[(2,3,4-trimethoxyphenyl)methyl]piperazine; 2,3,7,8-tetrachlorodibenzodioxine | 15 | 46477330 | 46481203 | Rat | 422 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1344238 | NEFL | neurofilament light chain | 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] | 8 | 24950955 | 24956612 | Human | 681 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1552280 | Nefl | neurofilament, light polypeptide | Enables protein-macromolecule adaptor activity. A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in intermediate filament bundle assembly; postsynaptic modulation of chemical synaptic transmission; and regulation of synapse maturation. Acts upstream of or within several processes, including cytoskeleton organization; neuron projection development; and regulation of axonogenesis. Located in axon and neurofilament. Is active in several cellular components, including Schaffer collateral - CA1 synapse; cholinergic synapse; and intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; limb; and peripheral nervous system ganglion. Used to study Charcot-Marie-Tooth disease type 2E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light chain). [provided by Alliance of Genome Resources, Jul 2025] | 14 | 68321312 | 68326544 | Mouse | 459 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9064063 | Nefl | neurofilament light chain | ENCODES a protein that exhibits identical protein binding (ortholog); molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); INVOLVED IN anterograde axonal transport (ortholog); axonal transport of mitochondrion (ortholog); cerebral cortex development (ortholog); ASSOCI ATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); cholinergic synapse (ortholog); cytoplasm (ortholog) | NW_004955403 | 47946413 | 47951734 | Chinchilla | 153 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11692259 | NEFL | neurofilament light chain | ENCODES a protein that exhibits molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); protein domain specific binding (ortholog); INVOLVED IN cerebral cortex development (ortholog); hippocampus development (ortholog); intermediate filament bundle assembly (ortholog); A SSOCIATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); growth cone (ortholog); neurofilament (ortholog) | 8 | 24218510 | 24224627 | Bonobo | 163 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12416586 | NEFL | neurofilament light chain | ENCODES a protein that exhibits molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); protein domain specific binding (ortholog); INVOLVED IN cerebral cortex development (ortholog); hippocampus development (ortholog); intermediate filament bundle assembly (ortholog); A SSOCIATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); growth cone (ortholog); neurofilament (ortholog) | 25 | 32463361 | 32468965 | Dog | 159 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12545045 | Nefl | neurofilament light chain | ENCODES a protein that exhibits molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); protein domain specific binding (ortholog); INVOLVED IN cerebral cortex development (ortholog); hippocampus development (ortholog); intermediate filament bundle assembly (ortholog); A SSOCIATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); growth cone (ortholog); neurofilament (ortholog) | NW_004936757 | 1642122 | 1646499 | Squirrel | 161 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626084796 | Nefl | neurofilament light chain | ENCODES a protein that exhibits identical protein binding (ortholog); molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); INVOLVED IN anterograde axonal transport (ortholog); axonal transport of mitochondrion (ortholog); cerebral cortex development (ortholog); ASSOCI ATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); cholinergic synapse (ortholog); cytoplasm (ortholog) | | | | Black Rat | 152 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14285052 | NEFL | neurofilament light chain | ENCODES a protein that exhibits identical protein binding (ortholog); molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); INVOLVED IN anterograde axonal transport (ortholog); axonal transport of mitochondrion (ortholog); cerebral cortex development (ortholog); ASSOCI ATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN neurofilament; axon (ortholog); growth cone (ortholog) | | | | Pig | 149 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 18728635 | NEFL | neurofilament light chain | ENCODES a protein that exhibits molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); protein domain specific binding (ortholog); INVOLVED IN cerebral cortex development (ortholog); hippocampus development (ortholog); intermediate filament bundle assembly (ortholog); A SSOCIATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); growth cone (ortholog); neurofilament (ortholog) | | | | Green Monkey | 163 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18925242 | Nefl | neurofilament light chain | ENCODES a protein that exhibits identical protein binding (ortholog); molecular condensate scaffold activity (ortholog); phospholipase binding (ortholog); INVOLVED IN anterograde axonal transport (ortholog); axonal transport of mitochondrion (ortholog); cerebral cortex development (ortholog); ASSOCI ATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); cholinergic synapse (ortholog); growth cone (ortholog) | | | | Naked Mole-Rat | 156 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155249852 | nefl | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 155241230 | nefl.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155250238 | nefl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 16566276 | AC107373.2 | novel transcript, antisense to NEFL | | | | | Human | | name | gene, lncrna |
| 2794507 | NEFLP1 | neurofilament light pseudogene 1 | | Y | 21221351 | 21221782 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |