Official Full Name
cytochrome P450, family 2, subfamily R, polypeptide 1
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.
CYP2R1; cytochrome P450, family 2, subfamily R, polypeptide 1; vitamin D 25-hydroxylase; Cytochrome P450 2R1; Cytochrome P450 family 2 R1; Cytochrome P450 family 2 subfamily R polypeptide 1; EC 184.108.40.206; MGC4663; Vitamin D 25 hydroxylase; OTTHUMP00000231476; cytochrome P450, family 2, R1