OPTN and neurodegenerative disease: 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.