フマリルアセトアセターゼ

フマリルアセトアセターゼまたはフマリルアセト酢酸加水分解酵素(Fumarylacetoacetate hydrolase)は、ヒトではFAH遺伝子でコードされる酵素である。 この酵素は、チロシン異化経路の最後の酵素である。FAH遺伝子の欠損や変異は、1型の遺伝性チロシン血症と関連する。 この酵素は、4-フマリルアセト酢酸のフマル酸とアセト酢酸への加水分解を触媒する。 ^ Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM (Apr 1991). “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 48 (3): 525–35. PMC 1682993. PMID 1998338. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682993/.  ^ Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R (Jun 1990). “Nucleotide sequence of cDNA encoding human fumarylacetoacetase”. Nucleic Acids Res 18 (7): 1887. doi:10.1093/nar/18.7.1887. PMC 330610. PMID 2336361. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC330610/.  ^ a b “Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)”. 2015年1月11日閲覧。 St-Louis M, Tanguay RM (1997). “Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview”. Hum. Mutat. 9 (4): 291–9. doi:10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9. PMID 9101289.  Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (1992). “Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient”. J. Clin. Invest. 90 (4): 1185–92. doi:10.1172/JCI115979. PMC 443158. PMID 1401056. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC443158/.  Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M (1990). “Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)”. Am. J. Hum. Genet. 47 (2): 308–16. PMC 1683717. PMID 2378356. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683717/.  Laberge C, Grenier A, Valet JP, Morissette J (1990). “Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I”. Am. J. Hum. Genet. 47 (2): 325–8. PMC 1683713. PMID 2378358. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683713/.  Kvittingen EA, Halvorsen S, Jellum E (1983). “Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia”. Pediatr. Res. 17 (7): 541–4. doi:10.1203/00006450-198307000-00005. PMID 6622096.  Kvittingen EA, Jellum E, Stokke O (1982). “Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia”. Clin. Chim. Acta 115 (3): 311–9. doi:10.1016/0009-8981(81)90244-8. PMID 7296877.  Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). “Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1”. Hum. Mutat. 6 (1): 66–73. doi:10.1002/humu.1380060113. PMID 7550234.  St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay RM (1995). “Two novel mutations involved in hereditary tyrosinemia type I”. Hum. Mol. Genet. 4 (2): 319–20. doi:10.1093/hmg/4.2.319. PMID 7757089.  Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N, Yokoyama-Kobayashi M, Aoki T (1995). “Construction of a human full-length cDNA bank”. Gene 150 (2): 243–50. doi:10.1016/0378-1119(94)90433-2. PMID 7821789.  Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA (1994). “Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1”. Am. J. Hum. Genet. 55 (4): 653–8. PMC 1918286. PMID 7942842. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918286/.  Rootwelt H, Brodtkorb E, Kvittingen EA (1994). “Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I”. Am. J. Hum. Genet. 55 (6): 1122–7. PMC 1918441. PMID 7977370. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918441/.  Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA (1994). “Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase”. Hum. Genet. 93 (6): 615–9. doi:10.1007/BF00201558. PMID 8005583.  Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (1994). “A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I”. N. Engl. J. Med. 331 (6): 353–7. doi:10.1056/NEJM199408113310603. PMID 8028615.  St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM (1994). “Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I”. Hum. Mol. Genet. 3 (1): 69–72. doi:10.1093/hmg/3.1.69. PMID 8162054.  Grompe M, al-Dhalimy M (1993). “Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I”. Hum. Mutat. 2 (2): 85–93. doi:10.1002/humu.1380020205. PMID 8318997.  Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (1993). “Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity”. Hum. Mol. Genet. 2 (7): 941–6. doi:10.1093/hmg/2.7.941. PMID 8364576.  Labelle Y, Puymirat J, Tanguay RM (1993). “Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1”. Biochim. Biophys. Acta 1180 (3): 250–6. doi:10.1016/0925-4439(93)90046-4. PMID 8422430.  Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R (1996). “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. 97 (1): 51–9. doi:10.1007/bf00218833. PMID 8557261.  GeneReviews/NIH/NCBI/UW entry on Tyrosinemia Type 1, FAH Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia Type I, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency fumarylacetoacetase - MeSH・アメリカ国立医学図書館・生命科学用語シソーラス（英語）