Basic information of PTPRC :
| Official Symbol of Gene | PTPRC |
| Species | Homo sapiens |
| Entrez Gene ID | 5788 |
| Official Full Name | protein tyrosine phosphatase receptor type C |
| Also known as | LCA; LY5; B220; CD45; L-CA; T200; CD45R; GP180; IMD105 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000081237 MIM:151460; AllianceGenome:HGNC:9666 |
| Map Location | 1q31.3-q32.1 |
| Variation Type | SNP |
| refSNP ID | exon 4 (C→G nucleotide transition in position 77) |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | RT–PCR and PCR,flow cytometry |
| Disease | MS |
| Disease subtype | N/A |
| Population | German |
| Sample Size | 219 MS/189 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 11101853 |
| Year | 2000 |
| Title | A point mutation in PTPRC is associated with the development of multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | The altered CD45 expression phenotype is associated with MS,in almost all cases, the altered expression is caused by a heterozygous C→G transition in PTPRC. |
| Mechanism/Pathway | We speculate that the mutation may affect activation, adhesion or migration of immune cells, resulting in alteration of the peripheral and local CNS immune response in those patients. |
