Entrez gene ID | | 120227 |
Official gene symbol | | CYP2R1 |
Full name | | cytochrome P450, family 2, subfamily R, polypeptide 1 |
Aliases | | ,MGC4663, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11p15.2 |
Gene position | | 14913751 - 14899555 Map Viewer |
Gene orientation | | minus |
Gene size | | 14197 bp |
Gene sequence |
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OMIM ID | | 608713 |
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