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.
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. In the acidic pathway, it produces 27-hydroxycholesterol from cholesterol whereas in the classic or neutral pathway, it produces 3β-hydroxy-5-cholestenoic acid.
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 (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. PMID1708392.
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. PMID2019602.
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. PMID7915755.
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. PMID9186905.
Reiss AB, Martin KO, Rojer DE et al. (1997). "Sterol 27-hydroxylase: expression in human arterial endothelium". J. Lipid Res.38 (6): 1254–60. PMID9215552.
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". Gene200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
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". Biochemistry37 (43): 15050–6. doi:10.1021/bi9807660. PMID9790667.
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 pharmaceutics229 (1–2): 75–86. doi:10.1016/S0378-5173(01)00834-1. PMID11604260.
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. doi:10.1034/j.1399-0004.2002.610116.x. PMID11903362.
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. PMID12011083.
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. doi:10.1161/01.ATV.0000022600.61391.A5. PMID12117727.
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. PMID12119285.
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. PMID12242561.