Basic information of EIF2B1 :
| Official Symbol of Gene | EIF2B1 |
| Species | Homo sapiens |
| Entrez Gene ID | 1967 |
| Official Full Name | eukaryotic translation initiation factor 2B subunit alpha |
| Also known as | EIF2B; EIF2BA; EIF2Balpha |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111361 MIM:606686; AllianceGenome:HGNC:3257 |
| Map Location | 12q24.31 |
| 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 | Dutch Caucasians |
| Sample Size | 160 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 |
