Gene Symbol | OTULIN |
Entrez Gene ID | 90268 |
Full Name | OTU deubiquitinase with linear linkage specificity |
Synonyms | AIPDS,FAM105B,GUM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]. |
Disorder MIM: | |
Disorder Html: | Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3) |