Product Information
Molecular Weight61517Da
Protein NameNeurofilament light polypeptide
Human Gene Id4747
Human Swiss Prot NoP07196
Mouse Gene Id18039
Mouse Swiss Prot NoP08551
Rat Gene Id83613
Rat Swiss Prot NoP19527
SpecificityNF-L Polyclonal Antibody detects endogenous levels of NF-L protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameNEFL; NF68; NFL; Neurofilament light polypeptide; NF-L; 68 kDa neurofilament protein; Neurofilament triplet L protein
Observed Band(KD)61
Functioncaution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]. CMT1F is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is charac
Subcellular Locationcytoplasm,cytosol,neurofilament,axon,growth cone,TSC1-TSC2 complex,myelin sheath,axon cytoplasm,
ExpressionAmygdala,Brain,Fetal brain cortex,Thalamus,
Backgroundneurofilament, light polypeptide(NEFL) Homo sapiens 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],