DISEASES

Disease-gene associations mined from literature

Literature associating USP18 and chromosome 22q11.2 microduplication syndrome

USP18 [ENSP00000215794]

ISG15-specific-processing protease; Involved in the regulation of inflammatory response to interferon type 1. Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms; Ubiquitin specific peptidases

Synonyms:  USP18,  USP18p,  hUSP18,  Q9UMW8,  ISG43 ...

Linkouts:  STRING  Pharos  UniProt  OMIM