OPTN is widely expression in liver, heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, retina, optic nerve blood vessels and so on. Many diseases have been reported to relevant to OPTN mutation or defective. Briefly, countless mutations have been reported in a subset of patients with Glaucoma or ALS. Moreover, GWAS have identify the OPTN as a genetic risk factor for Paget’s disease of bone. Other diseases such as Cancer, Crohn’s disease, Parkinson’s disease, Alzheimer’s disease, diabetic nephropathy, and neuronal intranuclear inclusion disease was related to OPTN to some degree. However, there is no compound can regulate OPTN directly so far.
FIGURE 1 Schveral representative binding partners and mutations we reviewed below
OPTN is a key regulator in autophagy
OPTN has been proposed to contribute to selective autophagy of depolarized mitochondria (mitophagy), protein aggregates (aggrephagy), and intracellular bacterial pathogens (xenophagy) through ubiquitin‐signaling. What’ more, OPTN has plenty of domains that mediate its interactions with several binding partners and it serves as a multifunctional adaptor for diverse autophagy events such as cargo recognition, autophagosome formation, autophagosome maturation,etc .