CYP2R1, Official Symbol CYP2R1provided by HGNC Official Full Name cytochrome P450 family 2 subfamily R member 1provided by HGNC Primary source HGNC:HGNC:20580 See related Ensembl:ENSG00000186104 MIM:608713; AllianceGenome:HGNC:20580 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Ubiquitous expression in skin (RPKM 2.2), testis (RPKM 2.0) and 25 other tissues See more Orthologs mouse all