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 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Kashmiri |
| Sample Size | NA |
Literature information of multiple sclerosis :
| Pubmed ID | 24980014 |
| Year | 2014 |
| Title | Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | In conclusion our study suggests involvement of the EIF2B5 gene in MS development, thus suggesting p.Thr194Ala to be a susceptibility factor for the development of multiple sclerosis. |
| Mechanism/Pathway | Most of the studies have shown that it results from the defects during protein synthesis, with the gene defects in EIF2B 1-5, encoding the five subunits of eukaryotic translation initiation factor 2B (eIF2B) α, β, γ, δ and ε, respectively. eIF2B plays a crucial role in protein translation and its regulation under different conditions. The previous studies have shown that mutations in five subunits of eIF2B cause white matter disease of the brain and thus EIF2B is the main culprit in development of white matter disease. |
