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This article concludes that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM (show MTSS1 Proteins) 600081). [review]
The authors describe a low-frequency CYP2R1 coding variant that exerts the largest effect upon 25-hydroxyvitamin D levels identified to date in the general European population and implicates vitamin D in the etiology of multiple sclerosis.
Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR (show CYP27B1 Proteins) and DHCR7 (show DHCR7 Proteins) were not correlated with vitamin D deficiency.
Expression of CYP2R1 was in spermatozoa from healthy controls compared with infertile men, however the percentage of spermatozoa expressing CYP2R1 was not significantly higher.
our study for the first time reports a potentially causative role of CYP2R1 mutation in Vogt-koyanagi-harada disease.
In a Pakistani population, no statistically significant associations between SNPs in VDR (show CYP27B1 Proteins), DBP (show GC Proteins), and CYP2R1 and tuberculosis was demonstrated.
Vitamin D related (VDR rs2228570 and CYP2R1 rs10741657) and IL28B rs12979860 genes polymorphisms accurately assure sustained viral response in naive CHC G4 patients treated with low cost standard therapy.
The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.
rs11023374 in CYP2R1 was significantly associated with serum 25(OH)D3.
The VDR (show CYP27B1 Proteins) and CYP2R1 variants may be involved in genetic interactions in the pathogenesis of persistent allergic rhinitis.
The results of this study suggest that CYP2R1 and CYP26A1 (show CYP26A1 Proteins) are important in the differentiation of oval cells into hepatoblast-like cells in the injured liver
These results suggest that CYP2R1 and CYP26A1 (show CYP26A1 Proteins) may play a major role in hepatoblast cell differentiation during the development of the liver.
CYP2R1 is the major enzyme responsible for 25-hydroxylation of vitamin D.
Data show that the absence of either of the two key hydroxylases, vitamin D 25-hydroxylase (CYP2R1) or vitamin D 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1 (show CYP27B1 Proteins))neither inhibits nor enhances the development of experimental autoimmune encephalomyelitis (EAE).
CYP2R1 is a strong candidate for the microsomal vitamin D 25-hydroxylase.
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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.
cytochrome P450, family 2, subfamily R, polypeptide 1
, vitamin D 25-hydroxylase
, similar to cytochrome P450 2R1
, cytochrome P450 2R1
, cytochrome P450, family 2, R1
, cytochrome P450, 2r1