title: Cytochromes p450: roles in diseases.
abstract: The cytochrome P450 superfamily consists of a large number of heme-containing monooxygenases. Many human P450s metabolize drugs used to treat human diseases. Others are necessary for synthesis of endogenous compounds essential for human physiology. In some instances, alterations in specific P450s affect the biological processes that they mediate and lead to a disease. In this minireview, we describe medically significant human P450s (from families 2, 4, 7, 11, 17, 19, 21, 24, 27, 46, and 51) and the diseases associated with these P450s.
authors: Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, Ohio 44106, USA. iap8@case.edu
authors: Irina A
authors: IA
authors: Pikuleva
authors: Michael R
authors: MR
authors: Waterman
mesh_terms: D000818:Animals; D002762:Cholecalciferol / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000502:physiology*; D015777:Eicosanoids / Q000096:biosynthesis; D006801:Humans; D008659:Metabolic Diseases / Q000201:enzymology* / Q000235:genetics; D009154:Mutation; D013256:Steroids / Q000096:biosynthesis
chemical_list: D015777:Eicosanoids; D013256:Steroids; D002762:Cholecalciferol; D003577:Cytochrome P-450 Enzyme System
keywords: Cholesterol Metabolism; Cytochrome P450; Eicosanoid; Enzyme Mutation; Genetic Diseases; Genetic Polymorphism; Inborn Errors of Metabolism; Steroidogenesis
references: Mutat Res. 2006 Jul 25;599(1-2):98-104
references: 16806293
references: J Biol Chem. 1995 Dec 15;270(50):29739-45
references: 8530364
references: Bone. 2012 Sep;51(3):563-9
references: 22588163
references: Annu Rev Biochem. 2009;78:1017-40
references: 19489738
references: J Steroid Biochem Mol Biol. 2011 May;125(1-2):23-31
references: 21092758
references: Mol Genet Metab. 2004 Sep-Oct;83(1-2):197-8
references: 15464435
references: J Biol Chem. 2001 Jun 29;276(26):23937-44
references: 11290741
references: FEBS J. 2012 May;279(9):1516-33
references: 22111624
references: Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2814-9
references: 15710898
references: J Clin Endocrinol Metab. 2006 Aug;91(8):2821-6
references: 16705068
references: Expert Rev Endocrinol Metab. 2011 May;6(3):383-395
references: 30754106
references: Nat Clin Pract Endocrinol Metab. 2007 May;3(5):414-21
references: 17452968
references: J Biol Chem. 2011 Feb 18;286(7):5607-13
references: 21159775
references: J Biol Chem. 2000 Jun 2;275(22):16543-9
references: 10748047
references: Am J Hum Genet. 2008 Feb;82(2):510-5
references: 18252231
references: Nature. 2012 Jan 22;482(7383):116-9
references: 22266943
references: J Biol Chem. 2009 Oct 16;284(42):28485-9
references: 19687010
references: Arch Neurol. 2005 Sep;62(9):1459-63
references: 16157755
references: J Clin Endocrinol Metab. 2012 Feb;97(2):E268-74
references: 22112808
references: Am J Hum Genet. 1998 Dec;63(6):1694-702
references: 9837822
references: Biochim Biophys Acta. 2011 Jan;1814(1):186-99
references: 20619365
references: Arch Biochem Biophys. 2005 Apr 1;436(1):50-61
references: 15752708
references: J Clin Endocrinol Metab. 2008 Mar;93(3):696-702
references: 18182448
references: J Clin Endocrinol Metab. 2011 Mar;96(3):792-8
references: 21159840
references: Cancer. 2002 Nov 1;95(9):2006-16
references: 12404296
references: J Clin Endocrinol Metab. 2005 Jan;90(1):538-41
references: 15507506
references: Mol Endocrinol. 1997 Dec;11(13):1961-70
references: 9415400
references: J Biol Chem. 1997 Sep 19;272(38):23995-4001
references: 9295351
references: J Pediatr Gastroenterol Nutr. 2008 Apr;46(4):465-9
references: 18367963
references: J Clin Endocrinol Metab. 2009 Mar;94(3):936-9
references: 19116240
references: J Clin Endocrinol Metab. 1999 Nov;84(11):4111-7
references: 10566658
references: Nat Genet. 1997 Oct;17(2):201-5
references: 9326943
references: J Am Soc Nephrol. 2008 Aug;19(8):1606-12
references: 18385420
references: J Clin Endocrinol Metab. 2001 Aug;86(8):3820-5
references: 11502818
references: Biochem Biophys Res Commun. 2007 Jul 20;359(1):46-50
references: 17532301
references: J Biol Chem. 2004 Aug 13;279(33):34674-81
references: 15148325
references: J Lipid Res. 1997 May;38(5):1053-8
references: 9186922
references: Curr Opin Nephrol Hypertens. 2007 Sep;16(5):465-70
references: 17693763
references: Circulation. 2005 Jan 4;111(1):63-9
references: 15611369
references: Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5712-7
references: 19553612
references: BMC Proc. 2009 Dec 15;3 Suppl 7:S92
references: 20018089
references: Mol Genet Metab. 2010 Aug;100(4):357-64
references: 20494601
references: J Lipid Res. 2001 Oct;42(10):1594-603
references: 11590215
references: Mol Vis. 2011 Feb 26;17:616-20
references: 21386929
references: J Clin Endocrinol Metab. 2012 Oct;97(10):E2022-5
references: 22855339
references: Brain. 2009 Jun;132(Pt 6):1589-600
references: 19439420
references: J Clin Invest. 1998 Nov 1;102(9):1690-703
references: 9802883
references: Hum Immunol. 1986 Apr;15(4):404-15
references: 3009365
references: Arch Biochem Biophys. 2012 Jul 1;523(1):95-102
references: 22446158
references: N Engl J Med. 2011 Aug 4;365(5):410-21
references: 21675912
references: Proc Natl Acad Sci U S A. 2004 May 18;101(20):7711-5
references: 15128933
references: Nature. 2009 Jan 8;457(7226):219-23
references: 19129847
references: Endocr Rev. 1994 Aug;15(4):421-38
references: 7988480
references: Eur J Neurol. 2010 Oct;17(10):1259-62
references: 20402754
references: Arch Biochem Biophys. 1995 Mar 10;317(2):343-7
references: 7893148
references: Expert Opin Drug Metab Toxicol. 2008 Nov;4(11):1403-14
references: 18950282
references: N Engl J Med. 1998 Mar 5;338(10):653-61
references: 9486994
references: Horm Res. 1999;51(5):211-22
references: 10559665
references: J Clin Endocrinol Metab. 2010 Feb;95(2):779-88
references: 20089618
references: J Biol Chem. 2003 Jun 20;278(25):22980-8
references: 12686551
references: J Biol Chem. 1991 Apr 25;266(12):7779-83
references: 2019602
references: J Biol Chem. 2003 Sep 26;278(39):38084-93
references: 12867411
references: Endocr Rev. 2000 Jun;21(3):245-91
references: 10857554
references: J Lipid Res. 2011 Dec;52(12):2111-2135
references: 21976778
references: Biochem Biophys Res Commun. 1980 May 14;94(1):313-8
references: 6248060
references: J Biol Chem. 1998 Feb 6;273(6):3158-65
references: 9452426
references: J Biol Chem. 2012 Mar 23;287(13):10613-10622
references: 22262854
references: J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13
references: 12161514
references: J Biol Chem. 1997 Nov 28;272(48):30178-84
references: 9374499
references: J Clin Endocrinol Metab. 2001 Sep;86(9):4445-52
references: 11549691
references: Neuromuscul Disord. 2009 Jan;19(1):62-5
references: 19187859
references: Kidney Int. 2007 Sep;72(6):683-9
references: 17597703
references: Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13589-94
references: 12370428
references: Neurogenetics. 2009 Apr;10(2):97-104
references: 18855023
references: Neurol Sci. 2006 Jun;27(2):143-9
references: 16816916
references: J Mol Biol. 2008 Jun 27;380(1):95-106
references: 18511070
references: J Biol Chem. 2011 Aug 19;286(33):29086-29097
references: 21705796
references: J Biol Chem. 1991 Apr 25;266(12):7774-8
references: 1708392
references: Chem Res Toxicol. 2008 Jan;21(1):70-83
references: 18052394
references: J Mol Biol. 2010 Feb 19;396(2):441-51
references: 19961857
references: Proc Natl Acad Sci U S A. 1999 Jun 22;96(13):7238-43
references: 10377398
references: Arch Biochem Biophys. 2012 Jul 1;523(1):30-6
references: 22310641
references: Eur J Neurol. 2011 Oct;18(10):1203-11
references: 21645175
references: N Engl J Med. 2011 Nov 3;365(18):1741-2; author reply 1742-3
references: 22047572
references: Proc Natl Acad Sci U S A. 2011 Jun 21;108(25):10139-43
references: 21636783
references: Curr Opin Pharmacol. 2008 Aug;8(4):449-57
references: 18619560
references: Proc Natl Acad Sci U S A. 1997 May 13;94(10):4925-30
references: 9144166
references: Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3869-74
references: 16505352
references: J Clin Endocrinol Metab. 2002 Jun;87(6):2424-30
references: 12050193
references: J Clin Endocrinol Metab. 2012 Mar;97(3):E423-7
references: 22337913
references: J Clin Invest. 2002 Jul;110(1):109-17
references: 12093894