Forms the major cytoskeletal structure of the axon. Defects in this peptide have been linked to many cancers
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Li, X., Li, L., Xiao, C. and Feng, Y. (2012). NEFL mRNA Expression Level Is a Prognostic Factor for Early-Stage Breast Cancer Patients. PLoS ONE, 7(2), e31146. PMID: 22319610
Residues 284-293 of neurofilament light polypeptide (NEFL), a neuronal intermediate filament (IF) which forms the major cytoskeletal structure of the axon. Neurofilaments help maintain the morphology of neurons, regenerate myelinated axons, and help transport neurotransmitters to axons and dendrites.
The NEFL gene is located in the chromosomal region 8p21, which is a genetic locus frequently exhibiting deletions in a variety of common human cancers. Perturbations in NEFL have been linked to a number of cancers including breast cancer and head and neck cancer and NEFL has been shown to act as a tumour suppressor. In addition to its role in cancers, mutations in NEFL have also been linked to motor neuron diseases, such as Charcot-Marie-Tooth disease (CMT)
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