Gene Symbol | CYP2R1 |
Entrez Gene ID | 120227 |
Full Name | cytochrome P450 family 2 subfamily R member 1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3) |