CYP2R1

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Cytochrome P450, family 2, subfamily R, polypeptide 1, also known as CYP2R1, is a human 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.

Further reading

• Ramos-Lopez E, Brück P, Jansen T; et al. (2008). "CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans". Diabetes Metab. Res. Rev. 23 (8): 631–6. doi:10.1002/dmrr.719. PMID 17607662.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ramos-Lopez E, Brück P, Jansen T; et al. (2007). "CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients". J. Steroid Biochem. Mol. Biol. 103 (3–5): 807–10. doi:10.1016/j.jsbmb.2006.12.056. PMID 17223345.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wjst M, Altmüller J, Faus-Kessler T; et al. (2006). "Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway". Respir. Res. 7: 60. doi:10.1186/1465-9921-7-60. PMID 16600026.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shinkyo R, Sakaki T, Kamakura M; et al. (2004). "Metabolism of vitamin D by human microsomal CYP2R1". Biochem. Biophys. Res. Commun. 324 (1): 451–7. doi:10.1016/j.bbrc.2004.09.073. PMID 15465040.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cheng JB, Levine MA, Bell NH; et al. (2004). "Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase". Proc. Natl. Acad. Sci. U.S.A. 101 (20): 7711–5. doi:10.1073/pnas.0402490101. PMID 15128933.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cheng JB, Motola DL, Mangelsdorf DJ, Russell DW (2003). "De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase". J. Biol. Chem. 278 (39): 38084–93. doi:10.1074/jbc.M307028200. PMID 12867411.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nelson DR (2003). "Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution". Arch. Biochem. Biophys. 409 (1): 18–24. PMID 12464240.