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CYP27A1: Wikis


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Cytochrome P450, family 27, subfamily A, polypeptide 1
Symbols CYP27A1; CP27; CTX; CYP27
External IDs OMIM606530 MGI88594 HomoloGene36040 GeneCards: CYP27A1 Gene
RNA expression pattern
PBB GE CYP27A1 203979 at tn.png
More reference expression data
Species Human Mouse
Entrez 1593 104086
Ensembl ENSG00000135929 ENSMUSG00000026170
UniProt Q02318 Q99LX3
RefSeq (mRNA) NM_000784 NM_024264
RefSeq (protein) NP_000775 NP_077226
Location (UCSC) Chr 2:
219.35 - 219.39 Mb
Chr 1:
74.65 - 74.67 Mb
PubMed search [1] [2]

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.

It is also involved in the metabolism of vitamin D3.[1]

Clinical significance

Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease.


  1. ^ Sakaki T, Kagawa N, Yamamoto K, Inouye K (January 2005). "Metabolism of vitamin D3 by cytochromes P450". Front. Biosci. 10: 119–34. PMID 15574355.  

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. doi:10.1073/pnas.90.18.8668. 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1172/JCI116484. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1136/jnnp.67.5.675. 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. doi:10.1046/j.1365-2265.2001.01160.x. 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. doi:10.1016/S0378-5173(01)00834-1. 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. doi:10.1034/j.1399-0004.2002.610116.x. 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. doi:10.1034/j.1399-0004.2002.610303.x. 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. doi:10.1161/01.ATV.0000022600.61391.A5. 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



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