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 | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | NA |
| Sample Size | 101MS |
Literature information of multiple sclerosis :
| Pubmed ID | 17439913 |
| Year | 2007 |
| Title | Arg113His mutation of vanishing white matter is not present in multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | We describe a VWM patient, homozygous carrier of this mutation, who presented with clinical characteristics compatible with multiple sclerosis (MS). Our goal was to check if G338A polymorph-ism is present in MS, particularly in patients with onset-associated neurological trauma. |
| Mechanism/Pathway | Vanishing white matter (VWM) is a childhood leukoencephalopathy with central hypomyelination,white matter rarefaction, and cystic degeneration. Adult onset, variable phenotype, and high frequency characterize Arg113His mutation caused by G338A polymorphism associated with VWM. |
