WordNet

any of a group of natural steroid alcohols derived from plants or animals; they are waxy insoluble substances (同)steroid alcohol

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/12/22 15:27:27」(JST)

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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.

Function[edit]

CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways.^[1] 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.

It is also involved in the metabolism of vitamin D₃.^[2]

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.^[3]

Clinical significance[edit]

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

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. ^{[§ 1]}

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Vitamin D Synthesis Pathway edit

^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".

References[edit]

^ Chiang JY (February 1998). "Regulation of bile acid synthesis". Front Biosci 3: d176–193. PMID 9450986.
^ Sakaki T, Kagawa N, Yamamoto K, Inouye K (January 2005). "Metabolism of vitamin D₃ by cytochromes P450". Front. Biosci. 10: 119–34. PMID 15574355.
^ Taylor JM, Borthwick F, Bartholomew C, Graham A (June 2010). "Overexpression of steroidogenic acute regulatory protein increases macrophage cholesterol efflux to apolipoprotein AI". Cardiovasc Res 86 (3): 526–534. doi:10.1093/cvr/cvq015. PMID 20083572.

External links[edit]

GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis
Cytochrome P-450 CYP27A1 at the US National Library of Medicine Medical Subject Headings (MeSH)

This article on a gene on chromosome 2 is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

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English Journal

Plasma 27-hydroxycholesterol/cholesterol ratio is increased in low high density lipoprotein-cholesterol healthy subjects.

Nunes VS, Leança CC, Panzoldo NB, Parra E, Zago V, Cazita PM, Nakandakare ER, de Faria EC, Quintão EC.SourceLipids Laboratory (LIM-10), Endocrinology and Metabolism Division of Hospital das Clinicas, Faculty of Medical Sciences, University of Sao Paulo, Av. Dr. Arnaldo, 455-Room 3305, CEP 01246-00 São Paulo, SP, Brazil. Electronic address: valeriasutti@gmail.com.
Clinical biochemistry.Clin Biochem.2013 Oct;46(15):1619-21. doi: 10.1016/j.clinbiochem.2013.06.025. Epub 2013 Jul 10.
Sterol 27-hydroxylase converts cholesterol to 27-hydroxycholesterol (27-OHC) which is widely distributed among tissues and is expressed at high levels in the vascular endothelium and macrophages. There is a continuous flow of this oxysterol from the tissues into the liver, where it is converted to b
PMID 23850851

FXR-induced secretion of FGF15/19 inhibits CYP27 expression in cholangiocytes through p38 kinase pathway.

Jung D, York JP, Wang L, Yang C, Zhang A, Francis HL, Webb P, McKeehan WL, Alpini G, Lesage GD, Moore DD, Xia X.SourceDepartment of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, 77030, USA.
Pflugers Archiv : European journal of physiology.Pflugers Arch.2013 Sep 26. [Epub ahead of print]
Cholangiocytes, bile duct lining cells, actively adjust the amount of cholesterol and bile acids in bile through expression of enzymes and channels involved in transportation and metabolism of the cholesterol and bile acids. Herein, we report molecular mechanisms regulating bile acid biosynthesis in
PMID 24068255

Japanese Journal

Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis

Nozue Tsuyoshi,Higashikata Toshinori,Inazu Akihiro,Kawashiri Masa-aki,Nohara Atsushi,Kobayashi Junji,Koizumi Junji,Yamagishi Masakazu,Mabuchi Hiroshi
Internal Medicine 49(12), 1127-1131, 2010
… Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. … We analyzed the CYP27A1 gene in two Japanese CTX patients. … The CYP27A1 gene was amplified by PCR and screened by PCR-SSCP. …
NAID 130000251640

Hypocholesterolemic Mechanism of Chlorella : Chlorella and Its Indigestible Fraction Enhance Hepatic Cholesterol Catabolism through Up-Regulation of Cholesterol 7α-Hydroxylase in Rats

Shibata Shinya,Hayakawa Kazuhito,Egashira Yukari [他],SANADA Hiroo
Bioscience, biotechnology, and biochemistry 71(4), 916-925, 2007-04-23
… CP increased the hepatic mRNA level and activity of cholesterol 7α-hydroxylase (CYP7A1). … CP did not affect hepatic mRNA levels of sterol 27-hydroxylase, HMGR, low-density lipoprotein (LDL) receptor, scavenger receptor class B1, ATP-binding cassette (ABC) A1, ABCG5, or ABCB11. …
NAID 10027513400

Enhanced Susceptibility of LDL to Oxidative Modification in a CTX Patient:-Role of Chenodeoxycholic Acid in Xanthoma Formation-

Kinoshita Makoto,Kawamura Mitsunobu,Fujita Mineko,Hirota Daisuke,Suda Takaoki,Taki Masanari,Kusano Jyun,Takao Kosuke,Takenaka Hideki,Kubota Shunichiro,Teramoto Tamio
Journal of Atherosclerosis and Thrombosis 11(3), 167-172, 2004
… Cerebrotendinous xanthomatosis (CTX) is a rare familial sterol storage disease, causing multiple xanthomas in tendons and the brain. … The underlying biochemical defect is a lack of the hepatic mitochondrial cholesterol 27-hydroxylase involved in the normal biosynthesis of bile acid, resulting in reduced biosynthesis of chenodeoxycholic acid (CDCA). …
NAID 130004444106

Related Pictures

★リンクテーブル★

リンク元	「ステロール27-水酸化酵素」「ステロール27-ヒドロキシラーゼ」「cytochrome P-450 CYP27A1」「CYP27A1」
拡張検索	「cholesterol 27-hydroxylase」

「ステロール27-水酸化酵素」

Cytochrome P450, family 27, subfamily A, polypeptide 1
Available structures
PDB	Ortholog search: PDBe, RCSB
List of PDB id codes
	1MFX
Identifiers
Symbols	CYP27A1; CP27; CTX; CYP27
External IDs	OMIM: 606530 MGI: 88594 HomoloGene: 36040 ChEMBL: 5992 GeneCards: CYP27A1 Gene
EC number	1.14.13.15
Gene Ontology
Molecular function	• iron ion binding; • steroid hydroxylase activity; • electron carrier activity; • heme binding; • vitamin D3 25-hydroxylase activity; • cholesterol 26-hydroxylase activity; • cholestanetriol 26-monooxygenase activity;
Cellular component	• mitochondrial inner membrane; • mitochondrial matrix;
Biological process	• bile acid biosynthetic process; • xenobiotic metabolic process; • cholesterol metabolic process; • bile acid metabolic process; • small molecule metabolic process;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
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