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 | polymorphism |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | real-time PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Central Asia |
| Sample Size | N/A |
Literature information of multiple sclerosis :
| Pubmed ID | 11862398 |
| Year | 2002 |
| Title | A CD45 polymorphism associated with abnormal splicing is absent in African populations |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant |
| Result | These studies suggest that the regulation of CD45 splicing may be critical for the proper function of the immune system. Because of these data we examined the frequency of the C77G allele in African and Asian populations from countries with high or low prevalence of HIV infection. Here we report that the variant CD45 C77G allele is absent in African populations |
| Mechanism/Pathway | Abstract The CD45 antigen is essential for normal antigen receptor-mediated signalling in lymphocytes, and different patterns of splicing of CD45 are associated with distinct functions in lymphocytes. Abnormal CD45 splicing has been recognized in humans, caused by a C77G transversion in the gene encoding CD45 (PTPRC) |
