CYP27A1 은 사이토크롬 P450 산화효소 를 인코딩하는 유전자 로, 흔히 스테롤 27-히드록실라아제 로 알려져 있다.이 효소는 미토콘드리아 내에서 발견되는 많은 다른 조직들에 위치한다. 그것은 담즙산 의 생합성에 가장 두드러지게 관련되어 있다. null
함수 CYP27A1은 고전적 경로와 산성 경로 모두에서 담즙산 으로 콜레스테롤 이 저하되는 데 참여한다.[5] 그것은 담즙산으로 가는 산성 경로에 있는 시작 효소로서 콜레스테롤 에서 27위치의 탄소에 히드록실 그룹을 도입하여 옥시스테롤 을 산출한다. 산성 경로에서는 콜레스테롤로부터 27-하이드록시콜레스테롤 을 생성하는 반면, 고전적 경로나 중립 경로에서는 3β-하이드록시-5-철에스테노산을 생성 한다. null
CYP27A1은 많은 다른 조직에서 존재하지만, 이들 조직에서 그것의 기능은 대체로 특징이 없다. 대식세포 에서 이 효소에 의해 생성된 27-수소콜레스테롤은 심혈관 질환 과 관련 된 염증인자의 생성에 도움이 될 수 있다.[6] null
임상적 유의성 CYP27A1의 돌연변이는 희귀 지질 저장 질병인 대뇌수축성 간토마토증 과 관련이 있다. null
CYP27A1의 억제제는 27-히드로옥시콜레스테롤(에스트로겐 작용이 있고 ER 양성 유방암 세포의 성장을 자극하는 것)의 생성을 억제하여 ER 양성 유방암 치료에 보조제 로 효과적일 수 있다.[7] CYP27A1 억제제로 확인된 시판 약으로는 아나스트로졸 , 파드로졸 , 비칼루타미드 , 덱스테토미딘 , 라부코나졸 , 포사코나졸 등이 있다.[7] null
대화형 경로 지도 각 기사에 연결하려면 아래의 유전자, 단백질, 대사물을 클릭하십시오. [§ 1]
[[파일: alt=Vitamin D 합성 경로(보기 /편집 )]]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000135929 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000026170 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Chiang JY (February 1998). "Regulation of bile acid synthesis". Frontiers in Bioscience . 3 (4): d176-93. doi :10.2741/a273 . PMID 9450986 . ^ Taylor JM, Borthwick F, Bartholomew C, Graham A (June 2010). "Overexpression of steroidogenic acute regulatory protein increases macrophage cholesterol efflux to apolipoprotein AI" . Cardiovascular Research . 86 (3): 526–34. doi :10.1093/cvr/cvq015 PMID 20083572 . ^ a b Mast N, Lin JB, Pikuleva IA (September 2015). "Marketed Drugs Can Inhibit Cytochrome P450 27A1, a Potential New Target for Breast Cancer Adjuvant Therapy" . Molecular Pharmacology . 88 (3): 428–36. doi :10.1124/mol.115.099598 . PMC 4551053 PMID 26082378 . 추가 읽기 Cali JJ, Russell DW (April 1991). "Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis" . The Journal of Biological Chemistry . 266 (12): 7774–8. doi :10.1016/S0021-9258(20)89517-9 PMID 1708392 . Cali JJ, Hsieh CL, Francke U, Russell DW (April 1991). "Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis" . The Journal of Biological Chemistry . 266 (12): 7779–83. doi :10.1016/S0021-9258(20)89518-0 PMC 4449724 PMID 2019602 . Guo YD, Strugnell S, Back DW, Jones G (September 1993). "Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions" . Proceedings of the National Academy of Sciences of the United States of America . 90 (18): 8668–72. Bibcode :1993PNAS...90.8668G . doi :10.1073/pnas.90.18.8668 PMC 47419 PMID 7690968 . Kim KS, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, Seyama Y (June 1994). "Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)" . Journal of Lipid Research . 35 (6): 1031–9. doi :10.1016/S0022-2275(20)40096-3 PMID 7915755 . Maruyama K, Sugano S (January 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, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM (June 1993). "Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin" . The Journal of Clinical Investigation . 91 (6): 2488–96. doi :10.1172/JCI116484 . PMC 443309 PMID 8514861 . Chen W, Kubota S, Kim KS, Cheng J, Kuriyama M, Eggertsen G, Björkhem I, Seyama Y (May 1997). "Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families" . Journal of Lipid Research . 38 (5): 870–9. doi :10.1016/S0022-2275(20)37212-6 PMID 9186905 . Reiss AB, Martin KO, Rojer DE, Iyer S, Grossi EA, Galloway AC, Javitt NB (June 1997). "Sterol 27-hydroxylase: expression in human arterial endothelium" . Journal of Lipid Research . 38 (6): 1254–60. doi :10.1016/S0022-2275(20)37206-0 PMID 9215552 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 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, Ishihara T, Seyama Y (October 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, Nakajima K, Fushiki S (November 1999). "Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis" . Journal of Neurology, Neurosurgery, and Psychiatry . 67 (5): 675–7. doi :10.1136/jnnp.67.5.675 . PMC 1736608 PMID 10519880 . Gascon-Barré M, Demers C, Ghrab O, Theodoropoulos C, Lapointe R, Jones G, Valiquette L, Ménard D (January 2001). "Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney". Clinical Endocrinology . 54 (1): 107–15. doi :10.1046/j.1365-2265.2001.01160.x . PMID 11167933 . S2CID 21864150 . Johnston TP, Nguyen LB, Chu WA, Shefer S (October 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, Shiga K, Ishibashi S, Fushiki S (January 2002). "A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27". Clinical Genetics . 61 (1): 77–8. doi :10.1034/j.1399-0004.2002.610116.x . PMID 11903362 . S2CID 43642764 . Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S (March 2002). "Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis". Clinical Genetics . 61 (3): 185–91. doi :10.1034/j.1399-0004.2002.610303.x . PMID 12000359 . S2CID 45930401 . Björkhem I, Araya Z, Rudling M, Angelin B, Einarsson C, Wikvall K (July 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" . The Journal of Biological Chemistry . 277 (30): 26804–7. doi :10.1074/jbc.M202343200 PMID 12011083 . von Bahr S, Movin T, Papadogiannakis N, Pikuleva I, Rönnow P, Diczfalusy U, Björkhem I (July 2002). "Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1)" . Arteriosclerosis, Thrombosis, and Vascular Biology . 22 (7): 1129–35. doi :10.1161/01.ATV.0000022600.61391.A5 PMID 12117727 . Meir K, Kitsberg D, Alkalay I, Szafer F, Rosen H, Shpitzen S, Avi LB, Staels B, Fievet C, Meiner V, Björkhem I, Leitersdorf E (September 2002). "Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis" . The Journal of Biological Chemistry . 277 (37): 34036–41. doi :10.1074/jbc.M201122200 PMID 12119285 . Lee MJ, Huang YC, Sweeney MG, Wood NW, Reilly MM, Yip PK (September 2002). "Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis". Journal of Neurology . 249 (9): 1311–2. doi :10.1007/s00415-002-0762-9 . PMID 12242561 . S2CID 32638499 .
외부 링크
CYP1 CYP2 CYP3(CYP3A ) CYP4 CYP5-20 CYP21-49 CYP51-69 CYP71-99 CYP71 (C1 , C2 , C3 , C4 , Z6 , AJ4 , AV1 , BA1 )CYP72A1 CYP73A1 CYP74 D1 )CYP75 (A1 , B1 )CYP76 (B6 , M7 )CYP79 (A1 , A2 , B1 , B2 , B3 , D1 , D3 , D4 )CYP80 (A1 , B1 , G2 )CYP81 (E1 , E3 , E7 , E9 )CYP88D6 CYP90C1 CYP93E1 CYP97C1 CYP99A3 CYP101-281 CYP301-499 CYP501-699 CYP701-999
지방 수용성 비타민
수용성 비타민
논비타민 공동 인자