Basic information of CCR5 :
| Official Symbol of Gene | CCR5 |
| Species | Homo sapiens |
| Entrez Gene ID | 1234 |
| Official Full Name | C-C motif chemokine receptor 5 |
| Also known as | CKR5; CCR-5; CD195; CKR-5; CCCKR5; CMKBR5; IDDM22; CC-CKR-5 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000160791 MIM:601373; AllianceGenome:HGNC:1606 |
| Map Location | 3p21.31 |
| Variation Type | Deletion |
| refSNP ID | Δ32 deletion allele |
Sample information of multiple sclerosis:
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Danish |
| Sample Size | 212 natalizumab-treated MS patients |
Literature information of multiple sclerosis :
| Pubmed ID | 23668375 |
| Year | 2013 |
| Title | The chemokine receptor CCR5 Δ32 allele in natalizumab-treated multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Treatment risk |
| Main Result | Negative |
| Result | CCR5 Δ32 is not associated with lower disease activity in MS patients treated with natalizumab. |
| Mechanism/Pathway | The expression of specific chemotactic factors in inflamed tissue helps guide specific subsets of immune cells expressing corresponding receptors to the site of inflammation.Perivascular inflammation is typical in MS lesions, and chemokines and their receptors are important for leucocyte recruitment into the CNS. In active, demyelinating brain lesions CCR5 expression has been observed on the surface of T helper type 1 (Th1) cells, regulatory T cells (T-reg) and monocytes. A deletion in the coding region of CCR5 termed CCR5 D32 gives rise to a non-functional receptor that is retained in the cell. CCR5 D32 heterozygous individuals have low expression of CCR5 protein and homozygous carriers of this mutation lack CCR5 on the cell surface. |
