Basic information of USP18 :

Official Symbol of Gene	USP18
Species	Homo sapiens
Entrez Gene ID	11274
Official Full Name	ubiquitin specific peptidase 18
Also known as	ISG43; UBP43; PTORCH2
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000184979 MIM:607057; AllianceGenome:HGNC:12616
Map Location	22q11.21

Sample information of multiple sclerosis:

Detected Sample	PBMCs
Sample Detail	N/A
Detected Method	RT-PCR
Disease	MS
Disease subtype	RRMS
Population	N/A
Sample Size	14 RRMS patients / 15 healthy controls

Literature information of multiple sclerosis :

Pubmed ID	21886806
Year	2011
Title	Search for specific biomarkers of IFNβ bioactivity in patients with multiple sclerosis

Results of multiple sclerosis :

Expression	down-regulation
Risk type	Disease risk
Result	Expression levels for this gene were significantly lower in MS patients compared with controls.
Mechanism/Pathway	USP18 codes for a type I IFN-inducible cysteine protease that deconjugates ISG15, a ubiquitin-like protein, from target proteins.Interestingly, USP18 has been shown to negatively regulate the type I IFN signalling pathway, and its deficiency results in enhanced and prolonged STAT1 phosphorylation.This action appears to be independent of its protease activity and mediated by the specific binding of USP18 to IFNAR2, which then blocks the interaction between JAK1 and the IFN receptor and results in inhibition of the downstream phosphorylation cascade.Although further studies are needed, it is tempting to speculate that a deficient expression of USP18 in MS patients may lead to overactivation of the type I IFN pathway and have implications in the therapeutic response to IFNβ.