rs6091822
This variant is located in the CYP24A1 gene.
▶Research that mentions this SNP (1)
▶Association of CYP2R1 rs10766197 with MS risk and disease progressionReviewConcetta Scazzone et al.(2018)· Journal of Neuroscience Research
This systematic review examines the role of cytochrome P450 (CYP) gene polymorphisms in the pathogenesis and development of ulcerative colitis. The authors discuss ten critical CYP isoforms (CYP1A1, CYP2D6, CYP2J2, CYP2R1, CYP3A4/3A5/3A7, CYP4F3, CYP24A1, CYP26B1, and CYP27B1) and their genetic variants associated with UC susceptibility and drug metabolism. Notable findings include CYP1A1*2A correlation with UC predisposition, CYP2D6*4 polymorphisms increasing UC risk (OR=1.56), CYP2J2 promoter polymorphism (G-50T) enrichment in UC patients, CYP24A1 variants (rs4809957, rs6068816, rs6091822, rs8124792) showing significant associations in East Asian populations, and CYP27B1 induction in UC lesions.
About CYP24A1
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all CYP24A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…