Basic information of CYP46A1 :
| Official Symbol of Gene | CYP46A1 |
| Species | Homo sapiens |
| Entrez Gene ID | 10858 |
| Official Full Name | cytochrome P450 family 46 subfamily A member 1 |
| Also known as | CP46; CYP46 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000036530 MIM:604087; AllianceGenome:HGNC:2641 |
| Map Location | 14q32.2 |
| Variation Type | SNP |
| refSNP ID | rs754203 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | RT-PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | Turkish population |
| Sample Size | 191MS/100Health |
Literature information of multiple sclerosis :
| Pubmed ID | 34546511 |
| Year | 2021 |
| Title |
Association of cholesterol 7α |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | CYP7A1 rs3808607 and CYP46A1 rs754203 variations are not likely to confer an independent risk for MS development in the Turkish population. |
| Mechanism/Pathway | Patients with multiple sclerosis (MS) have significantly lower vitamin D levels. Cholesterol is known to be the precursor for vitamin D synthesis, and cholesterol removal is regulated by cholesterol 7α-hydroxylase (CYP7A1) in the liver and cholesterol 24S-hydroxylase (CYP46A1) in the brain. In this study, single nucleotide polymorphisms (SNPs) within the genes CYP7A1 (rs3808607) and CYP46A1 (rs754203) were investigated for their effects on serum lipid profiles, vitamin D levels, and the risk of developing MS. |
