Basic information of PRF1 :
| Official Symbol of Gene | PRF1 |
| Species | Homo sapiens |
| Entrez Gene ID | 5551 |
| Official Full Name | perforin 1 |
| Also known as | P1; PFP; HPLH2 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000180644 MIM:170280; AllianceGenome:HGNC:9360 |
| Map Location | 10q22.1 |
| Variation Type | mutations |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | PBMCs |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Italian |
| Sample Size | 190 patients with multiple sclerosis and 268 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 18496551 |
| Year | 2008 |
| Title | Variations of the perforin gene in patients with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | A91V and possibly other perforin variations indicate susceptibility to MS. |
| Mechanism/Pathway | mutations |
