Basic information of ERAP1 :
| Official Symbol of Gene | ERAP1 |
| Species | Homo sapiens |
| Entrez Gene ID | 51752 |
| Official Full Name | endoplasmic reticulum aminopeptidase 1 |
| Also known as | ALAP; A-LAP; ARTS1; ERAAP; APPILS; ARTS-1; ERAAP1; PILSAP; PILS-AP |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000164307 MIM:606832; AllianceGenome:HGNC:18173 |
| Map Location | 5q15 |
| Variation Type | SNP |
| refSNP ID | rs30187 |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | TaqMan |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Italians |
| Sample Size | 517 patients,500 age- and sex-matched healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 22253828 |
| Year | 2012 |
| Title | A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | In summary, we report that a functional ERAP1 allele previously associated to AS confers susceptibility to MS in Italian populations, whereas its role in predisposing to CD remains to be evaluated. |
| Mechanism/Pathway | N/A |
