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 |
| Variation Type | SNP |
| refSNP ID | rs118204011 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | peripheral blood |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | PPMS, SPMS, RRMS |
| Population | Sicilian |
| Sample Size | 100 MS patients and 92 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 27904983 |
| Year | 2017 |
| Title | VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | We did not observe any case of all three CYP27B1 variants among MS patients as well as controls. |
| Mechanism/Pathway | 1,25(OH)2D, the biologically active metabolite, is the result of a second hydroxylation in the kidney, catalyzed by the 1 a hydroxylase, CYP27B1. |
