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 | SNP |
| refSNP ID | rs3758562 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS/PPMS/SPMS |
| Population | Spanish population |
| Sample Size | 420MS/324Control |
Literature information of multiple sclerosis :
| Pubmed ID | 20921521 |
| Year | 2010 |
| Title | Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | We genotyped three PRF1 single nucleotide polymorphisms (rs885822, rs10999426, and rs3758562) in 420 patients with MS and 512 controls. |
| Mechanism/Pathway | The granule-dependent exocytosis pathway is an important mechanism to induce apoptosis by CD8+ T cells and NK cells and involves lytic molecules such as perforin. |
