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

延胡索醯乙醯乙酸水解酶（英語：，Fumarylacetoacetate hydrolase，簡稱FAH）為人類體內的一種酵素，由FAH基因轉譯。[1][2][3]

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。[3]

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

Phaneuf, D; Labelle, Y; Bérubé, D; Arden, K; Cavenee, W; Gagné, R; et al. . Am J Hum Genet. Apr 1991, 48 (3): 525–35. PMC 1682993 . PMID 1998338. 已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
Agsteribbe, E; van Faassen, H; Hartog, MV; Reversma, T; Taanman, JW; Pannekoek, H; et al. . Nucleic Acids Res. Jun 1990, 18 (7): 1887. PMC 330610 . PMID 2336361. doi:10.1093/nar/18.7.1887. 已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)
. （原始内容存档于2009-10-18）.

參考文獻

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外部連結

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[pmid1998338-1] Phaneuf, D; Labelle, Y; Bérubé, D; Arden, K; Cavenee, W; Gagné, R; et al. . Am J Hum Genet. Apr 1991, 48 (3): 525–35. PMC 1682993 . PMID 1998338. 已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)

[pmid2336361-2] Agsteribbe, E; van Faassen, H; Hartog, MV; Reversma, T; Taanman, JW; Pannekoek, H; et al. . Nucleic Acids Res. Jun 1990, 18 (7): 1887. PMC 330610 . PMID 2336361. doi:10.1093/nar/18.7.1887. 已忽略未知参数|author-name-separator= (帮助); 已忽略未知参数|author-separator= (帮助)

[entrez-3] . （原始内容存档于2009-10-18）.