DISEASES

Disease-gene associations mined from literature

Literature associating USP18 and retinal vasculopathy with cerebral leukodystrophy

USP18 [ENSP00000215794]

Ubl carboxyl-terminal hydrolase 18; 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. ; Belongs to the peptidase C19 family.

Synonyms:  USP18,  USP18p,  hUSP18,  Q9UMW8,  Q9UMW8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM