CYP2R1 Polyclonal Antibody, AbBy Fluor™ 488 Conjugated

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.

Cytochrome P450 2R1; Cytochrome P450 family 2 R1; Cytochrome P450 family 2 subfamily R polypeptide 1; EC 1.14.13.15; MGC4663; Vitamin D 25 hydroxylase.