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维基百科

延胡索醯乙醯乙酸水解酶

一月 27, 2023

延胡索醯乙醯乙酸水解酶（英語：Fumarylacetoacetase，Fumarylacetoacetate hydrolase，簡稱FAH）為人類體內的一種酵素，由FAH基因轉譯。[1][2][3]

延胡索醯乙醯乙酸水解酶
Fumarylacetoacetate hydrolase (fumarylacetoacetase)
标识
代号 FAH
扩展标识 遗传学：613871 鼠基因：95482 同源基因：110 GeneCards: FAH Gene
EC編號 3.7.1.2
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 2184 14085
Ensembl ENSG00000103876 ENSMUSG00000030630
UniProt P16930 P35505
mRNA序列 NM_000137 NM_010176
蛋白序列 NP_000128 NP_034306
基因位置 Chr 15:
80.44 – 80.48 Mb		 Chr 7:
84.59 – 84.61 Mb
PubMed查询 [1] [2]

這個酵素在酪胺酸代謝途徑中扮演重要角色，因此FAH缺乏者可能會導致酪胺酸血症（英语：tyrosinemia）。[3]

FAH可以將延胡索醯乙醯乙酸（英语：4-fumarylacetoacetate）水解為延胡索酸和乙醯乙酸。

病理學

FAH基因病變可能導致第一型酪胺酸血症（英语：type I tyrosinemia）。

參考文獻

  1. ^ Phaneuf, D; Labelle, Y; Bérubé, D; Arden, K; Cavenee, W; Gagné, R; et al. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet. Apr 1991, 48 (3): 525–35. PMC 1682993  . PMID 1998338.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  2. ^ Agsteribbe, E; van Faassen, H; Hartog, MV; Reversma, T; Taanman, JW; Pannekoek, H; et al. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. Nucleic Acids Res. Jun 1990, 18 (7): 1887. PMC 330610  . PMID 2336361. doi:10.1093/nar/18.7.1887.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  3. ^ 3.0 3.1 . （原始内容存档于2009-10-18）. 

參考文獻

  • St-Louis, M; Tanguay, RM. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. Hum. Mutat. 1997, 9 (4): 291–9. PMID 9101289. doi:10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9.  已忽略未知参数|author-separator= (帮助); 已忽略未知参数|author-name-separator= (帮助)
  • Phaneuf, D; Lambert, M; Laframboise, R; Mitchell, G; Lettre, F; Tanguay, RM. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J. Clin. Invest. 1992, 90 (4): 1185–92. PMC 443158  . PMID 1401056. doi:10.1172/JCI115979.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Tanguay, RM; Valet, JP; Lescault, A; Duband, JL; Laberge, C; Lettre, F; et al. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am. J. Hum. Genet. 1990, 47 (2): 308–16. PMC 1683717  . PMID 2378356.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Laberge, C; Grenier, A; Valet, JP; Morissette, J. Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. Am. J. Hum. Genet. 1990, 47 (2): 325–8. PMC 1683713  . PMID 2378358.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Kvittingen, EA; Halvorsen, S; Jellum, E. Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr. Res. 1983, 17 (7): 541–4. PMID 6622096. doi:10.1203/00006450-198307000-00005.  已忽略未知参数|author-separator= (帮助); 已忽略未知参数|author-name-separator= (帮助)
  • Kvittingen, EA; Jellum, E; Stokke, O. Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. Clin. Chim. Acta. 1982, 115 (3): 311–9. PMID 7296877. doi:10.1016/0009-8981(81)90244-8.  已忽略未知参数|author-separator= (帮助); 已忽略未知参数|author-name-separator= (帮助)
  • Hahn, SH; Krasnewich, D; Brantly, M; Kvittingen, EA; Gahl, WA. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Hum. Mutat. 1995, 6 (1): 66–73. PMID 7550234. doi:10.1002/humu.1380060113.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • St-Louis, M; Poudrier, J; Phaneuf, D; Leclerc, B; Laframboise, R; Tanguay, RM. Two novel mutations involved in hereditary tyrosinemia type I. Hum. Mol. Genet. 1995, 4 (2): 319–20. PMID 7757089. doi:10.1093/hmg/4.2.319.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Kato, S; Sekine, S; Oh, SW; Kim, NS; Umezawa, Y; Abe, N; et al. Construction of a human full-length cDNA bank. Gene. 1995, 150 (2): 243–50. PMID 7821789. doi:10.1016/0378-1119(94)90433-2.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Rootwelt, H; Berger, R; Gray, G; Kelly, DA; Coşkun, T; Kvittingen, EA. Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. Am. J. Hum. Genet. 1994, 55 (4): 653–8. PMC 1918286  . PMID 7942842.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Rootwelt, H; Brodtkorb, E; Kvittingen, EA. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. Am. J. Hum. Genet. 1994, 55 (6): 1122–7. PMC 1918441  . PMID 7977370.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Rootwelt, H; Chou, J; Gahl, WA; Berger, R; Coşkun, T; Brodtkorb, E; et al. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. Hum. Genet. 1994, 93 (6): 615–9. PMID 8005583. doi:10.1007/BF00201558.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Grompe, M; St-Louis, M; Demers, SI; al-Dhalimy, M; Leclerc, B; Tanguay, RM. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N. Engl. J. Med. 1994, 331 (6): 353–7. PMID 8028615. doi:10.1056/NEJM199408113310603.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • St-Louis, M; Leclerc, B; Laine, J; Salo, MK; Holmberg, C; Tanguay, RM. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum. Mol. Genet. 1994, 3 (1): 69–72. PMID 8162054. doi:10.1093/hmg/3.1.69.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Grompe, M; al-Dhalimy, M. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Hum. Mutat. 1993, 2 (2): 85–93. PMID 8318997. doi:10.1002/humu.1380020205.  已忽略未知参数|author-separator= (帮助); 已忽略未知参数|author-name-separator= (帮助)
  • Labelle, Y; Phaneuf, D; Leclerc, B; Tanguay, RM. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum. Mol. Genet. 1993, 2 (7): 941–6. PMID 8364576. doi:10.1093/hmg/2.7.941.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
  • Labelle, Y; Puymirat, J; Tanguay, RM. Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1. Biochim. Biophys. Acta. 1993, 1180 (3): 250–6. PMID 8422430. doi:10.1016/0925-4439(93)90046-4.  已忽略未知参数|author-separator= (帮助); 已忽略未知参数|author-name-separator= (帮助)
  • Ploos van Amstel, JK; Bergman, AJ; van Beurden, EA; Roijers, JF; Peelen, T; van den Berg, IE; et al. Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Hum. Genet. 1996, 97 (1): 51–9. PMID 8557261. doi:10.1007/bf00218833.  已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)

外部連結

  • GeneReviews/NIH/NCBI/UW entry on Tyrosinemia Type 1, FAH Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia Type I, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency （页面存档备份，存于互联网档案馆）
  • 醫學主題詞表（MeSH）：fumarylacetoacetase

Template:Gene-15-stub

一月 27, 2023
延胡索醯乙醯乙酸水解酶, 英語, fumarylacetoacetase, fumarylacetoacetate, hydrolase, 簡稱fah, 為人類體內的一種酵素, 由fah基因轉譯, fumarylacetoacetate, hydrolase, fumarylacetoacetase, 标识代号fah扩展标识遗传学, 613871, 鼠基因, 95482, 同源基因, genecards, geneec編號3, 2基因本体论描述分子功能, fumarylacetoacetase, activity,. 延胡索醯乙醯乙酸水解酶 英語 Fumarylacetoacetase Fumarylacetoacetate hydrolase 簡稱FAH 為人類體內的一種酵素 由FAH基因轉譯 1 2 3 延胡索醯乙醯乙酸水解酶 Fumarylacetoacetate hydrolase fumarylacetoacetase 标识代号FAH扩展标识遗传学 613871 鼠基因 95482 同源基因 110 GeneCards FAH GeneEC編號3 7 1 2基因本体论描述分子功能 fumarylacetoacetase activity metal ion binding细胞成分 cytosol extracellular vesicular exosome生物过程 arginine catabolic process L phenylalanine catabolic process tyrosine catabolic process cellular nitrogen compound metabolic process small molecule metabolic processSources Amigo QuickGORNA表达模式更多表达数据直系同源体物种人类小鼠Entrez218414085EnsemblENSG00000103876ENSMUSG00000030630UniProtP16930P35505mRNA序列NM 000137NM 010176蛋白序列NP 000128NP 034306基因位置Chr 15 80 44 80 48 MbChr 7 84 59 84 61 MbPubMed查询 1 2 查论编這個酵素在酪胺酸代謝途徑中扮演重要角色 因此FAH缺乏者可能會導致酪胺酸血症 英语 tyrosinemia 3 FAH可以將延胡索醯乙醯乙酸 英语 4 fumarylacetoacetate 水解為延胡索酸和乙醯乙酸 目录 1 病理學 2 參考文獻 3 參考文獻 4 外部連結病理學 编辑FAH基因病變可能導致第一型酪胺酸血症 英语 type I tyrosinemia 參考文獻 编辑 Phaneuf D Labelle Y Berube D Arden K Cavenee W Gagne R et al Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase the enzyme deficient in hereditary tyrosinemia assignment of the gene to chromosome 15 Am J Hum Genet Apr 1991 48 3 525 35 PMC 1682993 PMID 1998338 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Agsteribbe E van Faassen H Hartog MV Reversma T Taanman JW Pannekoek H et al Nucleotide sequence of cDNA encoding human fumarylacetoacetase Nucleic Acids Res Jun 1990 18 7 1887 PMC 330610 PMID 2336361 doi 10 1093 nar 18 7 1887 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 3 0 3 1 Entrez Gene FAH fumarylacetoacetate hydrolase fumarylacetoacetase 原始内容存档于2009 10 18 參考文獻 编辑St Louis M Tanguay RM Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I overview Hum Mutat 1997 9 4 291 9 PMID 9101289 doi 10 1002 SICI 1098 1004 1997 9 4 lt 291 AID HUMU1 gt 3 0 CO 2 9 已忽略未知参数 author separator 帮助 已忽略未知参数 author name separator 帮助 Phaneuf D Lambert M Laframboise R Mitchell G Lettre F Tanguay RM Type 1 hereditary tyrosinemia Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient J Clin Invest 1992 90 4 1185 92 PMC 443158 PMID 1401056 doi 10 1172 JCI115979 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Tanguay RM Valet JP Lescault A Duband JL Laberge C Lettre F et al Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia type I Am J Hum Genet 1990 47 2 308 16 PMC 1683717 PMID 2378356 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Laberge C Grenier A Valet JP Morissette J Fumarylacetoacetase measurement as a mass screening procedure for hereditary tyrosinemia type I Am J Hum Genet 1990 47 2 325 8 PMC 1683713 PMID 2378358 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Kvittingen EA Halvorsen S Jellum E Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia Pediatr Res 1983 17 7 541 4 PMID 6622096 doi 10 1203 00006450 198307000 00005 已忽略未知参数 author separator 帮助 已忽略未知参数 author name separator 帮助 Kvittingen EA Jellum E Stokke O Assay of fumarylacetoacetate fumarylhydrolase in human liver deficient activity in a case of hereditary tyrosinemia Clin Chim Acta 1982 115 3 311 9 PMID 7296877 doi 10 1016 0009 8981 81 90244 8 已忽略未知参数 author separator 帮助 已忽略未知参数 author name separator 帮助 Hahn SH Krasnewich D Brantly M Kvittingen EA Gahl WA Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1 Hum Mutat 1995 6 1 66 73 PMID 7550234 doi 10 1002 humu 1380060113 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 St Louis M Poudrier J Phaneuf D Leclerc B Laframboise R Tanguay RM Two novel mutations involved in hereditary tyrosinemia type I Hum Mol Genet 1995 4 2 319 20 PMID 7757089 doi 10 1093 hmg 4 2 319 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Kato S Sekine S Oh SW Kim NS Umezawa Y Abe N et al Construction of a human full length cDNA bank Gene 1995 150 2 243 50 PMID 7821789 doi 10 1016 0378 1119 94 90433 2 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Rootwelt H Berger R Gray G Kelly DA Coskun T Kvittingen EA Novel splice missense and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1 Am J Hum Genet 1994 55 4 653 8 PMC 1918286 PMID 7942842 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Rootwelt H Brodtkorb E Kvittingen EA Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene with implications for diagnosis of tyrosinemia type I Am J Hum Genet 1994 55 6 1122 7 PMC 1918441 PMID 7977370 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Rootwelt H Chou J Gahl WA Berger R Coskun T Brodtkorb E et al Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase Hum Genet 1994 93 6 615 9 PMID 8005583 doi 10 1007 BF00201558 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Grompe M St Louis M Demers SI al Dhalimy M Leclerc B Tanguay RM A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I N Engl J Med 1994 331 6 353 7 PMID 8028615 doi 10 1056 NEJM199408113310603 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 St Louis M Leclerc B Laine J Salo MK Holmberg C Tanguay RM Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I Hum Mol Genet 1994 3 1 69 72 PMID 8162054 doi 10 1093 hmg 3 1 69 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Grompe M al Dhalimy M Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia type I Hum Mutat 1993 2 2 85 93 PMID 8318997 doi 10 1002 humu 1380020205 已忽略未知参数 author separator 帮助 已忽略未知参数 author name separator 帮助 Labelle Y Phaneuf D Leclerc B Tanguay RM Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity Hum Mol Genet 1993 2 7 941 6 PMID 8364576 doi 10 1093 hmg 2 7 941 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 Labelle Y Puymirat J Tanguay RM Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase the deficient enzyme in hereditary tyrosinemia type 1 Biochim Biophys Acta 1993 1180 3 250 6 PMID 8422430 doi 10 1016 0925 4439 93 90046 4 已忽略未知参数 author separator 帮助 已忽略未知参数 author name separator 帮助 Ploos van Amstel JK Bergman AJ van Beurden EA Roijers JF Peelen T van den Berg IE et al Hereditary tyrosinemia type 1 novel missense nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene variability of the genotype phenotype relationship Hum Genet 1996 97 1 51 9 PMID 8557261 doi 10 1007 bf00218833 已忽略未知参数 author name separator 帮助 已忽略未知参数 author separator 帮助 外部連結 编辑GeneReviews NIH NCBI UW entry on Tyrosinemia Type 1 FAH Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency 页面存档备份 存于互联网档案馆 醫學主題詞表 MeSH fumarylacetoacetaseTemplate Gene 15 stub 这是一篇水解酶小作品 你可以通过编辑或修订扩充其内容 查论编 取自 https zh wikipedia org w index php title 延胡索醯乙醯乙酸水解酶 amp oldid 72349001, 维基百科，wiki，书籍，书籍，图书馆，

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