Anti-NEFL/NF-L Antibody Picoband® Fluoro488 Conjugated

Neurofilament light polypeptide (NFL), also known as neurofilament light chain, is a neurofilament protein that in humans is encoded by the NEFL gene. 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.

Fatty acid-binding protein, liver; Fatty acid-binding protein 1; Liver-type fatty acid-binding protein; L-FABP; Squalene- and sterol-carrier protein; SCP; Z-protein; p14; Fabp1

Expressed in lung cancers, including adenocarcinoma, squamous cell carcinoma and small-cell carcinoma. Widely expressed. Expressed in fetal kidney, liver, lung and brain. In adult highest expression in heart and placenta.

Fatty Acid Oxidation, Fatty Acids, Lipid and Lipoprotein Metabolism, Lipid Metabolism, Metabolic Signaling Pathways, Metabolism, Pathways and Processes, Redox Metabolism, Signal Transduction

Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes (By similarity) . Binds cholesterol (PubMed:25732850) . Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity) .

1. Berciano, J., Garcia, A., Peeters, K., Gallardo, E., De Vriendt, E., Palayo-Negro, A. L., Infante, J., Jordanova, A. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. J. Neurol. 262: 1289-1300, 2015. 2. Hurst, J., Flavell, D., Julien, J.-P., Meijer, D., Mushynski, W., Grosveld, F. The human neurofilament gene (NEFL) is located on the short arm of chromosome 8. Cytogenet. Cell Genet. 45: 30-32, 1987. 3. Leung, C. L., Nagan, N., Graham, T. H., Liem, R. K. H. A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease. Am. J. Med. Genet. 140A: 1021-1025, 2006.