「フマリルアセトアセターゼ」の版間の差分
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en:Fumarylacetoacetate hydrolase18:54, 3 January 2015を翻訳 |
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2015年1月11日 (日) 13:38時点における版
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[1][2][3]。
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[3]。
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。
出典
- ^ “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. (Apr 1991). PMC 1682993. PMID 1998338.
- ^ “Nucleotide sequence of cDNA encoding human fumarylacetoacetase”. Nucleic Acids Res 18 (7): 1887. (Jun 1990). doi:10.1093/nar/18.7.1887. PMC 330610. PMID 2336361.
- ^ a b “Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)”. 2015年1月11日閲覧。
関連文献
- “Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview”. Hum. Mutat. 9 (4): 291–9. (1997). doi:10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9. PMID 9101289.
- “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. (1992). doi:10.1172/JCI115979. PMC 443158. PMID 1401056.
- “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. (1990). PMC 1683717. PMID 2378356.
- “Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I”. Am. J. Hum. Genet. 47 (2): 325–8. (1990). PMC 1683713. PMID 2378358.
- “Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia”. Pediatr. Res. 17 (7): 541–4. (1983). doi:10.1203/00006450-198307000-00005. PMID 6622096.
- “Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia”. Clin. Chim. Acta 115 (3): 311–9. (1982). doi:10.1016/0009-8981(81)90244-8. PMID 7296877.
- “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. (1995). doi:10.1002/humu.1380060113. PMID 7550234.
- “Two novel mutations involved in hereditary tyrosinemia type I”. Hum. Mol. Genet. 4 (2): 319–20. (1995). doi:10.1093/hmg/4.2.319. PMID 7757089.
- “Construction of a human full-length cDNA bank”. Gene 150 (2): 243–50. (1995). doi:10.1016/0378-1119(94)90433-2. PMID 7821789.
- “Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1”. Am. J. Hum. Genet. 55 (4): 653–8. (1994). PMC 1918286. PMID 7942842.
- “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. (1994). PMC 1918441. PMID 7977370.
- “Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase”. Hum. Genet. 93 (6): 615–9. (1994). doi:10.1007/BF00201558. PMID 8005583.
- “A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I”. N. Engl. J. Med. 331 (6): 353–7. (1994). doi:10.1056/NEJM199408113310603. PMID 8028615.
- “Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I”. Hum. Mol. Genet. 3 (1): 69–72. (1994). doi:10.1093/hmg/3.1.69. PMID 8162054.
- “Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I”. Hum. Mutat. 2 (2): 85–93. (1993). doi:10.1002/humu.1380020205. PMID 8318997.
- “Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity”. Hum. Mol. Genet. 2 (7): 941–6. (1993). doi:10.1093/hmg/2.7.941. PMID 8364576.
- “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. (1993). doi:10.1016/0925-4439(93)90046-4. PMID 8422430.
- “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. (1996). doi:10.1007/bf00218833. PMID 8557261.