Immunogen:Peptide derived from human CYP2R1 (274-313aa).
Purification: Immunogen affinity purified
Storage Buffer: PBS, pH 7.4(1%BSA and 0.1% Sodium azide)
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.
Alternate Names:
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.