CYP27A1

Cytochrome P450, family 27, subfamily A, polypeptide 1, also known as CYP27A1, is a vertebrate gene.cite web | title = Entrez Gene: CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1593| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1593| accessdate = ]

ummary

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

Further reading

PBB_Further_reading
citations =
*cite journal | author=Cali JJ, Russell DW |title=Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. |journal=J. Biol. Chem. |volume=266 |issue= 12 |pages= 7774–8 |year= 1991 |pmid= 1708392 |doi=
*cite journal | author=Cali JJ, Hsieh CL, Francke U, Russell DW |title=Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. |journal=J. Biol. Chem. |volume=266 |issue= 12 |pages= 7779–83 |year= 1991 |pmid= 2019602 |doi=
*cite journal | author=Guo YD, Strugnell S, Back DW, Jones G |title=Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 18 |pages= 8668–72 |year= 1993 |pmid= 7690968 |doi=
*cite journal | author=Kim KS, Kubota S, Kuriyama M, "et al." |title=Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). |journal=J. Lipid Res. |volume=35 |issue= 6 |pages= 1031–9 |year= 1994 |pmid= 7915755 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Leitersdorf E, Reshef A, Meiner V, "et al." |title=Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. |journal=J. Clin. Invest. |volume=91 |issue= 6 |pages= 2488–96 |year= 1993 |pmid= 8514861 |doi=
*cite journal | author=Chen W, Kubota S, Kim KS, "et al." |title=Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. |journal=J. Lipid Res. |volume=38 |issue= 5 |pages= 870–9 |year= 1997 |pmid= 9186905 |doi=
*cite journal | author=Reiss AB, Martin KO, Rojer DE, "et al." |title=Sterol 27-hydroxylase: expression in human arterial endothelium. |journal=J. Lipid Res. |volume=38 |issue= 6 |pages= 1254–60 |year= 1997 |pmid= 9215552 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Chen W, Kubota S, Ujike H, "et al." |title=A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. |journal=Biochemistry |volume=37 |issue= 43 |pages= 15050–6 |year= 1998 |pmid= 9790667 |doi= 10.1021/bi9807660
*cite journal | author=Shiga K, Fukuyama R, Kimura S, "et al." |title=Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis. |journal=J. Neurol. Neurosurg. Psychiatr. |volume=67 |issue= 5 |pages= 675–7 |year= 1999 |pmid= 10519880 |doi=
*cite journal | author=Gascon-Barré M, Demers C, Ghrab O, "et al." |title=Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney. |journal=Clin. Endocrinol. (Oxf) |volume=54 |issue= 1 |pages= 107–15 |year= 2001 |pmid= 11167933 |doi=
*cite journal | author=Johnston TP, Nguyen LB, Chu WA, Shefer S |title=Potency of select statin drugs in a new mouse model of hyperlipidemia and atherosclerosis. |journal=International journal of pharmaceutics |volume=229 |issue= 1-2 |pages= 75–86 |year= 2001 |pmid= 11604260 |doi=
*cite journal | author=Toba H, Fukuyama R, Sasaki M, "et al." |title=A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27. |journal=Clin. Genet. |volume=61 |issue= 1 |pages= 77–8 |year= 2002 |pmid= 11903362 |doi=
*cite journal | author=Lamon-Fava S, Schaefer EJ, Garuti R, "et al." |title=Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. |journal=Clin. Genet. |volume=61 |issue= 3 |pages= 185–91 |year= 2002 |pmid= 12000359 |doi=
*cite journal | author=Björkhem I, Araya Z, Rudling M, "et al." |title=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. |journal=J. Biol. Chem. |volume=277 |issue= 30 |pages= 26804–7 |year= 2002 |pmid= 12011083 |doi= 10.1074/jbc.M202343200
*cite journal | author=von Bahr S, Movin T, Papadogiannakis N, "et al." |title=Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). |journal=Arterioscler. Thromb. Vasc. Biol. |volume=22 |issue= 7 |pages= 1129–35 |year= 2002 |pmid= 12117727 |doi=
*cite journal | author=Meir K, Kitsberg D, Alkalay I, "et al." |title=Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis. |journal=J. Biol. Chem. |volume=277 |issue= 37 |pages= 34036–41 |year= 2002 |pmid= 12119285 |doi= 10.1074/jbc.M201122200
*cite journal | author=Lee MJ, Huang YC, Sweeney MG, "et al." |title=Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis. |journal=J. Neurol. |volume=249 |issue= 9 |pages= 1311–2 |year= 2002 |pmid= 12242561 |doi= 10.1007/s00415-002-0762-9
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes