延胡索醯乙醯乙酸水解酶

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
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 process Sources: Amigo / QuickGO
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]

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。

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。

FAH可以將延胡索醯乙醯乙酸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。

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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 

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