Basic information of CYP27B1 :
| Official Symbol of Gene | CYP27B1 |
| Species | Homo sapiens |
| Entrez Gene ID | 1594 |
| Official Full Name | cytochrome P450 family 27 subfamily B member 1 |
| Also known as | VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111012 MIM:609506; AllianceGenome:HGNC:2606 |
| Map Location | 12q14.1 |
Sample information of multiple sclerosis:
| Detected Sample | Brain |
| Sample Detail | dendritic cells |
| Detected Method | real-time PCR. |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | NA |
Literature information of multiple sclerosis :
| Pubmed ID | 24158849 |
| Year | 2013 |
| Title | The CYP27B1 variant associated with increased risk of autoimmune disease is underexpressed in tolerising dendritic cells |
Results of multiple sclerosis :
| Expression | down-regulation |
| Risk type | Disease risk |
| Result | These data support therapeutic approaches aimed at targeting Vitamin D effects on DCs |
| Mechanism/Pathway | Genome-wide association studies have identified a linkage disequilibrium block on chromosome 12 associated with multiple sclerosis (MS), type 1 diabetes and other autoimmune diseases. |
