Basic information of CYP7A1 :
| Official Symbol of Gene | CYP7A1 |
| Species | Homo sapiens |
| Entrez Gene ID | 2651 |
| Official Full Name | cytochrome P450 family 7 subfamily A member 1 |
| Also known as | CP7A; CYP7; CYPVII |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000167910 MIM:118455; AllianceGenome:HGNC:2651 |
| Map Location | 8q12.1 |
| Variation Type | SNP |
| refSNP ID | rs3808607 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Korean population |
| Sample Size | 129 MS cases ã€89 NMO cases and 325 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 23740208 |
| Year | 2013 |
| Title | Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS |
| Mechanism/Pathway | NMO and MS have different genetic risk factors |
