OPTN

Description

The OPTN (optineurin) is a protein-coding gene located on chromosome 10.

OPTN may refer to:

OPTN, also known as Optineurin, is a protein that plays a crucial role in maintaining the Golgi complex, membrane trafficking, and exocytosis. It interacts with myosin VI and Rab8, facilitating the connection of myosin VI to the Golgi complex and contributing to Golgi ribbon formation. OPTN is involved in activating the innate immune response during viral infections by recruiting TBK1 to the Golgi apparatus, promoting its phosphorylation after RLR or TLR3 stimulation. Activated TBK1 subsequently phosphorylates IRF3, leading to the production of IFN-beta/IFNB1. OPTN exhibits neuroprotective properties in the eye and optic nerve, potentially by regulating membrane trafficking and cellular morphogenesis through a complex containing Rab8 and huntingtin (HD). It mediates the interaction of Rab8 with TBC1D17 during Rab8-mediated endocytic trafficking, including that of the transferrin receptor (TFRC/TfR), and regulates Rab8 recruitment to tubules originating from the endocytic recycling compartment. As an autophagy receptor, OPTN interacts directly with both the cargo destined for degradation and an autophagy modifier from the MAP1 LC3 family. It targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52.

OPTN is also known as ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing