CYP2R1, Vitamin D 25-hydroxylase, Cytochrome P450 2R1
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. [provided by RefSeq, Jul 2008],catalytic activity:5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + NADPH + O(2) = (25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol + NADP(+) + H(2)O.,cofactor:Heme group.,disease:Defects in CYP2R1 are a cause of 25-hydroxyvitamin D(3) deficiency (25HOD3D)[MIM:600081], also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. First described in patients who had rickets at a young age despite a history of adequate vitamin D intake. The patients sera had low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity, and low levels of 25-hydroxyvitamin D.,function:Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).,similarity:Belongs to the cytochrome P450 family.,subunit:Homodimer.,
