Basic information of CTLA4 :
| Official Symbol of Gene | CTLA4 |
| Species | Homo sapiens |
| Entrez Gene ID | 1493 |
| Official Full Name | cytotoxic T-lymphocyte associated protein 4 |
| Also known as | CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000163599 MIM:123890; AllianceGenome:HGNC:2505 |
| Map Location | 2q33.2 |
| Variation Type | CTLA-4-319C/T |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | Two-hundred and thirty unrelated MS patients,380 gender- and age-matched healthy subjects |
Literature information of multiple sclerosis :
| Pubmed ID | 19740340 |
| Year | 2009 |
| Title | The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | We found that among the five polymorphisms studied, two (CT60A/G and Jo31G/T) were associated with susceptibility to MS. |
| Mechanism/Pathway | We clearly show, for the first time, that 3′-UTR polymorphisms of the CTLA-4 gene influence both membrane and cytoplasmic CTLA-4 levels, as measured by MFI, and in this way they have impact on disease susceptibility. |
