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 | 1q31.3-q32.1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000081237 MIM:151460; AllianceGenome:HGNC:9666 |
| Map Location | 1q31.3-q32.1 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | white patients from the North West region of the United Kingdom |
| Sample Size | 330 patients/197controls |
Literature information of multiple sclerosis :
| Pubmed ID | 12810785 |
| Year | 2003 |
| Title | The role of the PTPRC (CD45) mutation in the development of multiple sclerosis in the North West region of the United Kingdom |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No PTPRC exon 4 genomic mutations were seen in any of the five families. In the non-familial cases the incidence of mutation was 4.1% in 197 controls and 5.1% in 330 multiple sclerosis patients.No significant association was found in this study with this mutation and disease susceptibility, sex, or an extended disability scale score of < 5.5. |
| Mechanism/Pathway | This candidate does not appear to influence the development of familial multiple sclerosis in this population. The negative result could arise from a type II error owing to the number of families and non-familial cases screened. Alternatively it might suggest that the contribution of the PTPRC mutation depends upon the genetic background. |
