OPTN is a multifunctional protein involved in signal transduction, vesicular transport, immune response, autophagy and various signaling pathways, including nuclear factor-kappa B (NF-kB) Mutations or deletions of the OPTN gene are associated with severe neurodegenerative diseases, such as amyotrophic lateral sclerosis, and glaucoma, inflammation, and elevated cancer risk. This evidence concerns the gene NFKB1 and neurodegenerative disease.