延胡索酰乙酰乙酸水解酶

延胡索酰乙酰乙酸水解酶
Fumarylacetoacetate hydrolase (fumarylacetoacetase)
延胡索酰乙酰乙酸水解酶; 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编号	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
Entrez	2184
Ensembl	ENSG00000103876
UniProt	P16930
mRNA序列	NM_000137
蛋白序列	NP_000128
基因位置	Chr 15:; 80.44 – 80.48 Mb
PubMed查询	[1]
	查; 论; 编;

延胡索酰乙酰乙酸水解酶（英语：Fumarylacetoacetase，Fumarylacetoacetate hydrolase，简称FAH）为人类体内的一种酵素，由FAH基因转译。^[1]^[2]^[3]

这个酵素在酪胺酸代谢途径中扮演重要角色，因此FAH缺乏者可能会导致酪胺酸血症（英语：tyrosinemia）。^[3]

FAH可以将延胡索酰乙酰乙酸（英语：4-fumarylacetoacetate）水解为延胡索酸和乙酰乙酸。

病理学

FAH基因病变可能导致第一型酪胺酸血症（英语：type I tyrosinemia）。

参考文献

^ Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM. 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.
^ Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R. 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.
^ ^3.0 ^3.1 Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase). （原始内容存档于2009-10-18）.

参考文献

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, Plante M. 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, Yokoyama-Kobayashi M, Aoki T. 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, Kvittingen EA. 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, Poll-The BT, Kvittingen EA, Berger R. 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.

外部链接

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[pmid1998338-1] Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM. 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.

[pmid2336361-2] Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R. 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.

[entrez-3] 3.0 ^3.1 Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase). （原始内容存档于2009-10-18）.

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