CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the mitochondria. It is most prominently involved in the biosynthesis of bile acids.
While CYP27A1 is present in many different tissues, its function in these tissues is largely uncharacterized. In macrophages, 27-hydroxycholesterol generated by this enzyme may be helpful against the production of inflammatory factors associated with cardiovascular disease.
Cali JJ, Russell DW (April 1991). "Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis". The Journal of Biological Chemistry. 266 (12): 7774–8. PMID1708392.
Cali JJ, Hsieh CL, Francke U, Russell DW (April 1991). "Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis". The Journal of Biological Chemistry. 266 (12): 7779–83. PMID2019602.
Kim KS, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, Seyama Y (June 1994). "Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)". Journal of Lipid Research. 35 (6): 1031–9. PMID7915755.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Chen W, Kubota S, Kim KS, Cheng J, Kuriyama M, Eggertsen G, Björkhem I, Seyama Y (May 1997). "Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families". Journal of Lipid Research. 38 (5): 870–9. PMID9186905.
Reiss AB, Martin KO, Rojer DE, Iyer S, Grossi EA, Galloway AC, Javitt NB (June 1997). "Sterol 27-hydroxylase: expression in human arterial endothelium". Journal of Lipid Research. 38 (6): 1254–60. PMID9215552.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Chen W, Kubota S, Ujike H, Ishihara T, Seyama Y (October 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. PMID9790667.
Gascon-Barré M, Demers C, Ghrab O, Theodoropoulos C, Lapointe R, Jones G, Valiquette L, Ménard D (January 2001). "Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney". Clinical Endocrinology. 54 (1): 107–15. doi:10.1046/j.1365-2265.2001.01160.x. PMID11167933.
Johnston TP, Nguyen LB, Chu WA, Shefer S (October 2001). "Potency of select statin drugs in a new mouse model of hyperlipidemia and atherosclerosis". International Journal of Pharmaceutics. 229 (1–2): 75–86. doi:10.1016/S0378-5173(01)00834-1. PMID11604260.
Toba H, Fukuyama R, Sasaki M, Shiga K, Ishibashi S, Fushiki S (January 2002). "A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27". Clinical Genetics. 61 (1): 77–8. doi:10.1034/j.1399-0004.2002.610116.x. PMID11903362.
Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S (March 2002). "Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis". Clinical Genetics. 61 (3): 185–91. doi:10.1034/j.1399-0004.2002.610303.x. PMID12000359.
Björkhem I, Araya Z, Rudling M, Angelin B, Einarsson C, Wikvall K (July 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". The Journal of Biological Chemistry. 277 (30): 26804–7. doi:10.1074/jbc.M202343200. PMID12011083.
von Bahr S, Movin T, Papadogiannakis N, Pikuleva I, Rönnow P, Diczfalusy U, Björkhem I (July 2002). "Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1)". Arteriosclerosis, Thrombosis, and Vascular Biology. 22 (7): 1129–35. doi:10.1161/01.ATV.0000022600.61391.A5. PMID12117727.
Meir K, Kitsberg D, Alkalay I, Szafer F, Rosen H, Shpitzen S, Avi LB, Staels B, Fievet C, Meiner V, Björkhem I, Leitersdorf E (September 2002). "Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis". The Journal of Biological Chemistry. 277 (37): 34036–41. doi:10.1074/jbc.M201122200. PMID12119285.
Lee MJ, Huang YC, Sweeney MG, Wood NW, Reilly MM, Yip PK (September 2002). "Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis". Journal of Neurology. 249 (9): 1311–2. doi:10.1007/s00415-002-0762-9. PMID12242561.