Basic information of FOXP3 :
| Official Symbol of Gene | FOXP3 |
| Species | Homo sapiens |
| Entrez Gene ID | 50943 |
| Official Full Name | forkhead box P3 |
| Also known as | JM2; AIID; IPEX; PIDX; XPID; DIETER |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000049768 MIM:300292; AllianceGenome:HGNC:6106 |
| Map Location | Xp11.23 |
| Variation Type | SNP |
| refSNP ID | rs2232369 |
Sample information of multiple sclerosis:
| Detected Sample | venous blood |
| Sample Detail | N/A |
| Detected Method | PCR-RFLP |
| Disease | MS |
| Disease subtype | RRMS, SPMS |
| Population | N/A |
| Sample Size | 148 MS patients / 102 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 28360598 |
| Year | 2014 |
| Title | Genetic Susceptibility to Multiple Sclerosis: The Role of FOXP3 Gene Polymorphism |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | When the allele frequencies found in MS patients and healthy controls were compared, no significant difference of distribution was observed between the two groups. |
| Mechanism/Pathway | Recent studies have shown that FoxP3 (forhead boxP3-scurfin) transcription factor is important in realizing the regulatory function of Treg cells.SNP may change the amino acid encoded by the gene, may stay silent or may be present in the regions where encoding does not occur.Therefore, it may play a significant role in development of autoimmune diseases by affecting gene production, mRNA formation or protein production. |
