OPTN (Optineurin) is a Protein Coding gene. The Optineurin gene encodes the coiled-coil containing protein optineurin. Optineurin is a multifunctional adaptor protein intimately involved in various vesicular trafficking pathways. Through interactions with an array of proteins, such as myosin VI, huntingtin, Rab8, and Tank-binding kinase 1, as well as via its oligomerization, optineurin can act as an adaptor, scaffold, or signal regulator to coordinate many cellular processes associated with the trafficking of membrane-delivered cargo. It is widely expressed in fat, adrenal, and other tissues. Certain mutations in OPTN (gene OPTN) are associated with primary open-angle glaucoma, a leading cause of irreversible blindness, and amyotrophic lateral sclerosis, a fatal motor neuron disease.
TMPY-03501
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