フマリルアセトアセターゼ
出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2015/01/11 13:38 UTC 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). . .
- ^ [ “Nucleotide sequence of cDNA encoding human fumarylacetoacetase”]. Nucleic Acids Res 18 (7): 1887. (Jun 1990). . . .
- ^ 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). . .
- [ “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). . . .
- [ “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). . .
- [ “Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I”]. Am. J. Hum. Genet. 47 (2): 325–8. (1990). . .
- “Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia”. Pediatr. Res. 17 (7): 541–4. (1983). . .
- “Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia”. Clin. Chim. Acta 115 (3): 311–9. (1982). . .
- “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). . .
- “Two novel mutations involved in hereditary tyrosinemia type I”. Hum. Mol. Genet. 4 (2): 319–20. (1995). . .
- “Construction of a human full-length cDNA bank”. Gene 150 (2): 243–50. (1995). . .
- [ “Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1”]. Am. J. Hum. Genet. 55 (4): 653–8. (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. (1994). . .
- “Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase”. Hum. Genet. 93 (6): 615–9. (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. (1994). . .
- “Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I”. Hum. Mol. Genet. 3 (1): 69–72. (1994). . .
- “Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I”. Hum. Mutat. 2 (2): 85–93. (1993). . .
- “Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity”. Hum. Mol. Genet. 2 (7): 941–6. (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. (1993). . .
- “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). . .
外部リンク
- GeneReviews/NIH/NCBI/UW entry on Tyrosinemia Type 1, FAH Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia Type I, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency
- fumarylacetoacetase - the US National Library of Medicine Medical Subject Headings (MeSH)
- フマリルアセトアセターゼのページへのリンク
