fumarylacetoacetate hydrolase

フマリルアセト酢酸ヒドラーゼ FAH

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/20 22:58:03」(JST)

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Fumarylacetoacetate hydrolase (fumarylacetoacetase)
Identifiers
Symbol	FAH
External IDs	OMIM: 613871 MGI: 95482 HomoloGene: 110 GeneCards: FAH Gene
EC number	3.7.1.2
Gene Ontology Molecular function • fumarylacetoacetase activity • metal ion binding Cellular component • cytosol Biological process • arginine catabolic process • L-phenylalanine catabolic process • tyrosine catabolic process • cellular nitrogen compound metabolic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2184	14085
Ensembl	ENSG00000103876	ENSMUSG00000030630
UniProt	P16930	P35505
RefSeq (mRNA)	NM_000137	NM_010176
RefSeq (protein)	NP_000128	NP_034306
Location (UCSC)	Chr 15: 80.44 – 80.48 Mb	Chr 7: 84.59 – 84.61 Mb
PubMed search	[1]	[2]

Fumarylacetoacetase is an enzyme that in humans is encoded by the FAH gene.

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).

Fumarylacetoacetate hydrolase is an enzyme which catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate.

Pathology

Mutations in the FAH gene cause type I tyrosinemia.

References

External links

• GeneReviews/NIH/NCBI/UW entry on Tyrosinemia Type 1, FAH Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia Type I, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency
• fumarylacetoacetase at the US National Library of Medicine Medical Subject Headings (MeSH)

Further reading

• St-Louis M, Tanguay RM (1997). "Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview". Hum. Mutat. 9 (4): 291–9. doi:10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9. PMID 9101289. 
• Phaneuf D, Lambert M, Laframboise R et al. (1992). "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. doi:10.1172/JCI115979. PMC 443158. PMID 1401056. 
• Tanguay RM, Valet JP, Lescault A et al. (1990). "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. PMC 1683717. PMID 2378356. 
• Laberge C, Grenier A, Valet JP, Morissette J (1990). "Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I". Am. J. Hum. Genet. 47 (2): 325–8. PMC 1683713. PMID 2378358. 
• Kvittingen EA, Halvorsen S, Jellum E (1983). "Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia". Pediatr. Res. 17 (7): 541–4. doi:10.1203/00006450-198307000-00005. PMID 6622096. 
• Kvittingen EA, Jellum E, Stokke O (1982). "Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia". Clin. Chim. Acta 115 (3): 311–9. doi:10.1016/0009-8981(81)90244-8. PMID 7296877. 
• Hahn SH, Krasnewich D, Brantly M et al. (1995). "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. doi:10.1002/humu.1380060113. PMID 7550234. 
• St-Louis M, Poudrier J, Phaneuf D et al. (1995). "Two novel mutations involved in hereditary tyrosinemia type I". Hum. Mol. Genet. 4 (2): 319–20. doi:10.1093/hmg/4.2.319. PMID 7757089. 
• Kato S, Sekine S, Oh SW et al. (1995). "Construction of a human full-length cDNA bank". Gene 150 (2): 243–50. doi:10.1016/0378-1119(94)90433-2. PMID 7821789. 
• Rootwelt H, Berger R, Gray G et al. (1994). "Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1". Am. J. Hum. Genet. 55 (4): 653–8. PMC 1918286. PMID 7942842. 
• Rootwelt H, Brodtkorb E, Kvittingen EA (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. PMC 1918441. PMID 7977370. 
• Rootwelt H, Chou J, Gahl WA et al. (1994). "Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase". Hum. Genet. 93 (6): 615–9. doi:10.1007/BF00201558. PMID 8005583. 
• Grompe M, St-Louis M, Demers SI et al. (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. doi:10.1056/NEJM199408113310603. PMID 8028615. 
• St-Louis M, Leclerc B, Laine J et al. (1994). "Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I". Hum. Mol. Genet. 3 (1): 69–72. doi:10.1093/hmg/3.1.69. PMID 8162054. 
• Grompe M, al-Dhalimy M (1993). "Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I". Hum. Mutat. 2 (2): 85–93. doi:10.1002/humu.1380020205. PMID 8318997. 
• Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (1993). "Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity". Hum. Mol. Genet. 2 (7): 941–6. doi:10.1093/hmg/2.7.941. PMID 8364576. 
• Labelle Y, Puymirat J, Tanguay RM (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. PMID 8422430. 
• Ploos van Amstel JK (1996). "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. PMID 8557261. 

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. チロシン代謝障害 disorders of tyrosine metabolism
• 2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
• 3. 肝細胞移植 hepatocyte transplantation
• 4. ALA脱水酵素欠損性ポルフィリン症 ala dehydratase porphyria
• 5. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis

English Journal

• Infiltrating neutrophils aggravate metabolic liver failure in fah-deficient mice.

• Qi Z1, Wang X, Wei H, Sun R, Tian Z.
• Liver international : official journal of the International Association for the Study of the Liver.Liver Int.2014 May 20. doi: 10.1111/liv.12594. [Epub ahead of print]
• BACKGROUND & AIMS: Mice deficient in tyrosine catabolic enzyme fumarylacetoacetate hydrolase (fah-/- ) was a useful animal model for studying liver failure. Tyrosine metabolic toxicants accumulate in hepatocytes over time in fah-/- mice, leading to hepatocyte necrosis which we propose release ma
• PMID 24840069

• Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease.

• Hickey RD1, Mao SA2, Glorioso J2, Lillegard JB3, Fisher JE2, Amiot B2, Rinaldo P4, Harding CO5, Marler R6, Finegold MJ7, Grompe M8, Nyberg SL9.
• Stem cell research.Stem Cell Res.2014 May 14;13(1):144-153. doi: 10.1016/j.scr.2014.05.003. [Epub ahead of print]
• Hereditary tyrosinemia type I (HT1) is caused by deficiency in fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last step of tyrosine metabolism. The most severe form of the disease presents acutely during infancy, and is characterized by severe liver involvement, most commonly resu
• PMID 24879068

• Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I.

• Angileri F1, Morrow G2, Roy V3, Orejuela D4, Tanguay RM5.
• Cancers.Cancers (Basel).2014 Apr 23;6(2):998-1019. doi: 10.3390/cancers6020998.
• Hereditary Tyrosinemia type 1 (HT1) is a metabolic liver disease caused by genetic defects of fumarylacetoacetate hydrolase (FAH), an enzyme necessary to complete the breakdown of tyrosine. The severe hepatic dysfunction caused by the lack of this enzyme is prevented by the therapeutic use of NTBC (
• PMID 24762634

Japanese Journal

• Hepatorenal tyrosinemia

• KITAGAWA Teruo
• Proceedings of the Japan Academy. Ser. B, Physical and Biological Sciences 88(5), 192-200, 2012-05
• NAID 40019276551

• フマリルアセト酢酸分解酵素欠損に伴う腎尿細管機能障害と細胞障害 : 遺伝性高チロシン血症I型モデルを用いた腎病変の検討

• 孫 茂森,服部 新三郎,辛島 真如,久保 秀司,山本 哲郎,松田 一郎,遠藤 文夫
• 日本先天代謝異常学会雑誌 14(2), 159, 1998-10-15
• NAID 10018922021

Related Links

• Fumarylacetoacetate hydrolase - Wikipedia, the free encyclopedia

Fumarylacetoacetate hydrolase is an enzyme which catalyzes the hydrolysis of 4- fumarylacetoacetate into fumarate and ... "Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in ...

• FAH - fumarylacetoacetate hydrolase (fumarylacetoacetase ...

The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. This enzyme is abundant in the liver and kidneys, and smaller amounts are found in many tissues throughout the body. Fumarylacetoacetate ...

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★リンクテーブル★

リンク元	「FAH」「フマリルアセト酢酸ヒドラーゼ」「FAH deficiency」
拡張検索	「fumarylacetoacetate hydrolase deficiency」
関連記事	「hydrolase」「hydrolases」「fumarylacetoacetate」

「FAH」

　　[★] フマリルアセト酢酸ヒドラーゼ fumarylacetoacetate hydrolase

「フマリルアセト酢酸ヒドラーゼ」

　　[★]

英

fumarylacetoacetate hydrolase、FAH

• チロシン分解酵素

「FAH deficiency」

　　[★]

同

fumarylacetoacetate hydrolase

「fumarylacetoacetate hydrolase deficiency」

　　[★] フマリルアセト酢酸分解酵素欠損症 FAH

「hydrolase」

　　[★]

• n.

• ヒドロラーゼ、加水分解酵素

「hydrolases」

　　[★]

• n.

• ヒドロラーゼ、加水分解酵素

「fumarylacetoacetate」

　　[★]

フマリルアセト・酸