CYP27A1

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Cytochrome P450, family 27, subfamily A, polypeptide 1
Identifiers
Symbol(s) CYP27A1; CP27; CTX; CYP27
External IDs OMIM: 606530 MGI: 88594 HomoloGene: 36040
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

[edit] 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.

[edit] References

  1. ^ a b Entrez Gene: CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1.

[edit] 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. 

[edit] External links

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v • d • e
Cytochrome P450, oxygenases: steroid hydroxylases - steroidogenesis (EC 1.14)
To pregnenolone
To aldosterone/cortisol
To sex hormones
Other
CYP27A1
v • d • e
Metabolism of vitamins, coenzymes, and cofactors
Vitamin A
Thiamine (B1)
Niacin (B3)
Folic acid (B9)
Vitamin C
Vitamin D
Vitamin K
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
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)