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 .