Basic information of GSK3B :
| Official Symbol of Gene | GSK3B |
| Species | Homo sapiens |
| Entrez Gene ID | 2932 |
| Official Full Name | glycogen synthase kinase 3 beta |
| Also known as | N/A |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000082701 MIM:605004; AllianceGenome:HGNC:4617 |
| Map Location | 3q13.33 |
| Variation Type | SNP |
| refSNP ID | rs334558 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | Taqman methodology |
| Disease | MS |
| Disease subtype | RRMS, PPMS, SPMS |
| Population | N/A |
| Sample Size | 319 MS patients / 294 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 21527318 |
| Year | 2011 |
| Title | GSK3β genetic variability in patients with Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | A statistically significant increased frequency of the rs334558 GG genotype was observed in patients as compared with controls.Stratifying MS patients according to the disease subtype, a statistically significant difference of rs334558 GG frequency was found between Relapsing Remitting (RR), but not Primary Progressive or Secondary MS, and controls. |
| Mechanism/Pathway | Glycogen synthase kinase 3 beta gene (GSK3β) encodes for a serinethreonine kinase involved in numerous physiological responses by phosphorylating a variety of nuclear and cytoplasmic proteins, including tau. Abnormal hyperphosphorylation of tau is involved in the pathogenesis of some common neurodegenerative disorders, but it is also likely to play a role also in the pathogenesis of Multiple Sclerosis (MS). |
