OTULIN : OTU deubiquitinase with linear linkage specificity
The OTULIN Gene: Regulating Inflammation and Beyond
Description:
The OTULIN gene provides instructions for creating a protein called OTULIN, which plays a crucial role in regulating inflammation, a key component of the immune system‘s response to foreign invaders and tissue repair. Inflammation is activated through a process called ubiquitination, where molecules called ubiquitin attach to specific proteins. OTULIN helps control inflammation by removing linear ubiquitin chains, turning off the inflammatory response once the infection is under control.
Associated Diseases:
Mutations in the OTULIN gene have been linked to several diseases, including:
- Malignant histiocytosis: A rare type of cancer that affects cells involved in inflammation.
- Primary lymphedema: A condition that causes swelling in the limbs due to impaired lymphatic drainage.
- Chronic rhinosinusitis: A long-term inflammation of the sinuses.
Did you Know ?
In approximately 50% of patients with malignant histiocytosis, mutations in the OTULIN gene have been identified, highlighting its significant role in the development of this cancer.
