Entry Name Type Loss of function
Gene OTULIN OTU deubiquitinase with linear linkage specificity [KO:
K18343 ]
Organism hsa_var Human gene variants (Homo sapiens)
Variation Network Disease H02414 Autoinflammation, panniculitis, and dermatosis syndrome
Reference Authors Manthiram K, Zhou Q, Aksentijevich I, Kastner DL
Title The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
Journal Reference Authors Aksentijevich I, Zhou Q
Title NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.
Journal LinkDB All DBs 