Basic information of EIF2B5 :
| Official Symbol of Gene | EIF2B5 |
| Species | Homo sapiens |
| Entrez Gene ID | 8893 |
| Official Full Name | eukaryotic translation initiation factor 2B subunit epsilon |
| Also known as | CLE; CACH; LVWM; EIF-2B; EIF2Bepsilon |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000145191 MIM:603945; AllianceGenome:HGNC:3261 |
| Map Location | 3q27.1 |
| Variation Type | SNP |
| refSNP ID | rs2971410 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | Dutch Caucasians |
| Sample Size | 102 patients/100controls |
Literature information of multiple sclerosis :
| Pubmed ID | 18632786 |
| Year | 2008 |
| Title | No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium.Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis |
| Mechanism/Pathway | We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium.Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis |
