Background: CYP2R1 is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are mono-oxygenases 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. Defects in CYP2R1 are a cause of 25-hydroxyvitamin D(3) deficiency, 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.
Description: Rabbit polyclonal to CYP2R1
Immunogen: KLH conjugated synthetic peptide derived from CYP2R1
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 57 kDa;
·Immunohistochemistry (Frozen/paraffin tissue section): 1/100-500;
·Immunocytochemistry: 1/100-500;
· ELISA:1/500;
·Optimal working dilutions must be determined by the end user.
