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; VWM5; EIF-2B; EIF2Bepsilon |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000145191 MIM:603945; AllianceGenome:HGNC:3261 |
| Map Location | 3q27.1 |
| Variation Type | SNP |
| refSNP ID | rs843358 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral venous blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Indian |
| Sample Size | 30 MS patients / 65 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 26671108 |
| Year | 2015 |
| Title | No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | We could not find statistically significant difference in the frequency of Ile587Val between MS patients and controls. |
| Mechanism/Pathway | It is already known that alterations in Eukaryotic Translation Initiation Factor 2B (EIF2B) gene encoding the five subunits of eIF2B complex cause Vanishing White Matter (VWM) disease of the brain and emerging evidences have advocated certain resemblances between MS and VWM in terms of clinical and epidemiological characteristics, thus validating the association study between EIF2B and MS.EIF2B5 is a member of EIF2B 1–5 gene family which encodes the five non-identical subunits α, β, γ, δ and ε, respectively of eIF2B complex. eIF2B regulates translation initiation by converting eIF2-guanosine diphosphate (GDP) into eIF2-guanosine triphosphate (GTP), thus regenerating active eIF2 by exchange of GDP for GTP.This exchange step is very crucial in the regulation of translation initiation under different conditions. |
