Aliases for CYP2R1 Gene
External Ids for CYP2R1 Gene
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]
GeneCards Summary for CYP2R1 Gene
CYP2R1 (Cytochrome P450, Family 2, Subfamily R, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP2R1 include rickets due to defect in vitamin d 25-hydroxylation and hypocalcemic vitamin d-dependent rickets. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP2C19.
UniProtKB/Swiss-Prot for CYP2R1 Gene
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).