Basic information of PTPN6 :
| Official Symbol of Gene | PTPN6 |
| Species | Homo sapiens |
| Entrez Gene ID | 5777 |
| Official Full Name | protein tyrosine phosphatase non-receptor type 6 |
| Also known as | HCP; HCPH; SHP1; SHP-1; HPTP1C; PTP-1C; SHP-1L; SH-PTP1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111679 MIM:176883; AllianceGenome:HGNC:9658 |
| Map Location | 12p13.31 |
| Variation Type | N/A |
| refSNP ID | rs2301262 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 364 Norwegian MS patients |
Literature information of multiple sclerosis :
| Pubmed ID | 16764945 |
| Year | 2006 |
| Title | Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Typing the 41 SNPs with functioning DCE assay (Fischer and Lerman, 1983) in the pooled Norwegian controls (n= 4000) demonstrated that 16 of these (39%) were heterozygous in the Norwegian population , four of these displaying a minor allele frequency of less than 1% |
| Result | Heterozygosity (HZ) in 4000 controls |
| Mechanism/Pathway | Genes that control T cell activation downstream of the initial presentation of peptide antigen by HLA molecules may be regarded as prime candidate susceptibility genes in T cell mediated autoimmune diseases, such as MS |
