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11-SEPTEMBER-2008 13:54:10 - 7A1 Cytochrome P450, family 27, subfamily A, polypeptide 1 Identifiers Symbols CYP27A1; CP27; CTX; CYP27 External IDs OMIM: 606530 MGI: 88594 HomoloGene: 36040 Gene ontology Molecular function: iron ion binding steroid hydroxylase activity heme binding metal ion binding cholestanetriol 26-monooxygenase activity Cellular component: mitochondrion mitochondrial inner membrane membrane Biological process: electron transport RNA expression pattern More reference expression data Orthologs Human Mouse Entrez 1593 104086 Ensembl ENSG00000135929 ENSMUSG00000026170 Uniprot Q02318 Q99LX3 Refseq NM_000784 mRNA NP_000775 protein NM_024264 mRNA NP_077226 protein Location Chr 2: 219.35 - 219.39 Mb Chr 1: 74.65 - 74.67 Mb Pubmed search 1 2 Cytochrome P450, family 27, subfamily A, polypeptide 1, also known as CYP27A1, is a vertebrate gene.1 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendineous xanthomatosis, a rare autosomal recessive lipid storage disease.1 Contents 1 Summary 2 References 3 Further reading 4 External links Summary CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase, an enzyme involved in the biosynthesis of bile acids. CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways. It is the initiating enzyme in the acidic pathway to bile acids, yielding oxysterols by introducing a hydroxyl group to the carbon at the 27 position in cholesterol. Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease. References ^ a b Entrez Gene: CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1. Further reading Cali JJ, Russell DW 1991. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.. J. Biol. Chem. 266 12: 7774-8. PMID 1708392. Cali JJ, Hsieh CL, Francke U, Russell DW 1991. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.. J. Biol. Chem. 266 12: 7779-83. PMID 2019602. Guo YD, Strugnell S, Back DW, Jones G 1993. Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions.. Proc. Natl. Acad. Sci. U.S.A. 90 18: 8668-72. PMID 7690968. Kim KS, Kubota S, Kuriyama M, et al. 1994. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis CTX.. J. Lipid Res. 35 6: 1031-9. PMID 7915755. Maruyama K, Sugano S 1994. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.. Gene 138 1-2: 171-4. PMID 8125298. Leitersdorf E, Reshef A, Meiner V, et al. 1993. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.. J. Clin. Invest. 91 6: 2488-96. PMID 8514861. Chen W, Kubota S, Kim KS, et al. 1997. Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene CYP27 cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.. J. Lipid Res. 38 5: 870-9. PMID 9186905. Reiss AB, Martin KO, Rojer DE, et al. 1997. Sterol 27-hydroxylase: expression in human arterial endothelium.. J. Lipid Res. 38 6: 1254-60. PMID 9215552. Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. 1997. Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.. Gene 200 1-2: 149-56. PMID 9373149. Chen W, Kubota S, Ujike H, et al. 1998. A novel Arg362Ser mutation in the sterol 27-hydroxylase gene CYP27: its effects on pre-mRNA splicing and enzyme activity.. Biochemistry 37 43: 15050-6. doi:10.1021/bi9807660. PMID 9790667. Shiga K, Fukuyama R, Kimura S, et al. 1999. Mutation of the sterol 27-hydroxylase gene CYP27 results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.. J. Neurol. Neurosurg. Psychiatr. 67 5: 675-7. PMID 10519880. Gascon-Barré M, Demers C, Ghrab O, et al. 2001. Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney.. Clin. Endocrinol. Oxf 54 1: 107-15. PMID 11167933. Johnston TP, Nguyen LB, Chu WA, Shefer S 2001. Potency of select statin drugs in a new mouse model of hyperlipidemia and atherosclerosis.. International journal of pharmaceutics 229 1-2: 75-86. PMID 11604260. Toba H, Fukuyama R, Sasaki M, et al. 2002. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.. Clin. Genet. 61 1: 77-8. PMID 11903362. Lamon-Fava S, Schaefer EJ, Garuti R, et al. 2002. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.. Clin. Genet. 61 3: 185-91. PMID 12000359. Björkhem I, Araya Z, Rudling M, et al. 2002. Differences in the regulation of the classical and the alternative pathway for bile acid synthesis in human liver. No coordinate regulation of CYP7A1 and CYP27A1.. J. Biol. Chem. 277 30: 26804-7. doi:10.1074/jbc.M202343200. PMID 12011083. von Bahr S, Movin T, Papadogiannakis N, et al. 2002. Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase CYP27A1.. Arterioscler. Thromb. Vasc. Biol. 22 7: 1129-35. PMID 12117727. Meir K, Kitsberg D, Alkalay I, et al. 2002. Human sterol 27-hydroxylase CYP27 overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis.. J. Biol. Chem. 277 37: 34036-41. doi:10.1074/jbc.M201122200. PMID 12119285. Lee MJ, Huang YC, Sweeney MG, et al. 2002. Mutation of the sterol 27-hydroxylase gene CYP27A1 in a Taiwanese family with cerebrotendinous xanthomatosis.. J. Neurol. 249 9: 1311-2. doi:10.1007/s00415-002-0762-9. PMID 12242561. 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. External links MeSH Cytochrome+P-450+CYP27A1 This article on a gene on chromosome 2 is a stub. v d e Cytochrome P450, oxygenases: steroid hydroxylases - steroidogenesis EC 1.14 To pregnenolone Side-chain cleavage To aldosterone/cortisol 21-hydroxylase - 18-hydroxylase - 11-beta-hydroxylase To sex hormones 17-alpha-hydroxylase - Aromatase Other CYP27A1 v d e Metabolism of vitamins, coenzymes, and cofactors Vitamin A Retinol binding protein Thiamine B1 Thiamine pyrophosphokinase Niacin B3 Indoleamine 2,3-dioxygenase - Formamidase Folic acid B9 Dihydropteroate synthetase - Dihydrofolate reductase - Serine hydroxymethyltransferase Vitamin C L-gulonolactone oxidase Vitamin D 25-Hydroxyvitamin D3 1-alpha-hydroxylase - CYP27A1 Vitamin K Vitamin K epoxide reductase v d e Cytochromes, oxygenases: cytochrome P450 EC 1.14 CYP1 A1, A2, B1 CYP2 A6, A7, A13, B6, C8, C9, C18, C19, D6, E1, F1, J2, R1, S1, U1, W1 CYP3 CYP3A A4, A5, A7, A43 CYP4 A11, A22, B1, F2, F3, F8, F11, F12, F22, V2, X1, Z1 CYP5-20 CYP5 A1 - CYP7 A1, B1 - CYP8 A1, B1 - CYP11 A1, B1, B2 - CYP17 A1 - CYP19 A1 - CYP20 A1 CYP21-51 CYP21 A2 - CYP24 A1 - CYP26 A1, B1, C1 - CYP27 A1, B1, C1 - CYP39 A1 - CYP46 A1 - CYP51 A1 Retrieved from http://en..org/wiki/CYP27A1 Categories: Genes on chromosome 2 | Human proteins | Chromosome 2 gene stubs | Cytochrome P450Hidden category: Protein pages needing a picture Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 8 July 2008, at 03:08
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