Basic information of LRP6 :
| Official Symbol of Gene | LRP6 |
| Species | Homo sapiens |
| Entrez Gene ID | 4040 |
| Official Full Name | LDL receptor related protein 6 |
| Also known as | ADCAD2; STHAG7 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000070018 MIM:603507; AllianceGenome:HGNC:6698 |
| Map Location | 12p13.2 |
| Variation Type | polymorphism |
| refSNP ID | A216V |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | RFLP-PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 326 MS patients / 290 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 11498265 |
| Year | 2001 |
| Title | No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | The homozygous expression of the A216V polymorphism was not observed in any of the MS patients or controls. |
| Mechanism/Pathway | LRP serves as a receptor for A2M and apolipoprotein E. Its distribution in the brain is consistent with a potential function in the regulation of proteinase activity, cytokine activity, and cholesterol metabolism. |
