Optineurin

Optineurin is a protein that in humans is encoded by the OPTN gene. It is involved in various cellular processes, including vesicle trafficking, inflammation, and autophagy.

Function

Optineurin plays a crucial role in the maintenance of cellular homeostasis. It is known to be involved in the regulation of NF-kB signaling, a pathway that is critical for immune response and cell survival. Optineurin also participates in the process of autophagy, where it helps in the clearance of damaged organelles and protein aggregates.

Clinical Significance

Mutations in the OPTN gene have been associated with several diseases. Notably, optineurin mutations are linked to primary open-angle glaucoma (POAG), a common form of glaucoma that leads to progressive vision loss. Additionally, mutations in optineurin have been implicated in amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder that affects motor neurons.

Interactions

Optineurin interacts with various proteins to exert its functions. It binds to ubiquitin, a small regulatory protein that tags other proteins for degradation. Optineurin also interacts with TBK1 (TANK-binding kinase 1), which is involved in the regulation of innate immunity.

Research

Ongoing research is focused on understanding the precise mechanisms by which optineurin mutations contribute to disease. Studies are exploring the role of optineurin in neurodegeneration and its potential as a therapeutic target for conditions like ALS and glaucoma.

See Also

• Glaucoma
• Amyotrophic lateral sclerosis
• Autophagy
• NF-kB signaling pathway

External Links

• [GeneCards: OPTN](https://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN)
• [UniProt: Q96CV9](https://www.uniprot.org/uniprot/Q96CV9)