Skip to main content
Fig. 13 | Inflammation and Regeneration

Fig. 13

From: Molecular biology of autoinflammatory diseases

Fig. 13

Homozygous loss-of-function mutations in OTULIN in patients with OTULIN-related autoinflammatory syndrome (ORAS). OTULIN is a deubiquitination enzyme that hydrolyzes methionine-1 (M1), which links to liner ubiquitin chains to regulate the activity of NF-κB. The L272P mutation of OTULIN disrupts the binding of OTULIN and ubiquitin to its substrate, leading to prolonged NF-κB activation

Back to article page