Home Details
| Official Symbol of Gene | TLR4 |
| Species | Homo sapiens |
| Entrez Gene ID | 7099 |
| Official Full Name | toll like receptor 4 |
| Also known as | TOLL; CD284; TLR-4; ARMD10 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000136869 MIM:603030; AllianceGenome:HGNC:11850 |
| Map Location | 9q33.1 |
| Variation Type | mutation |
| refSNP ID | Asp299Gly |
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 890 MS patients with multiple sclerosis and 350 healthy controls |
| Pubmed ID | 15932772 |
| Year | 2005 |
| Title | Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis |
| Risk Type | Phenotype risk |
| Main Result | Negative |
| Result | In vitro LPS stimulation studies showed a significantly lower proliferation of PBMCs from donors heterozygous for the Asp299Gly mutation in comparison to PBMCs from individuals with the wild-type genotype ( p = 0.01). |
| Mechanism/Pathway | It is possible that the reduced activity towards activation via the TLR-4 pathway takes place on both activating and suppressing cell types which then leads to a new equilibrium with the net result of a normal overall function. |

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