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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)

Fumarylacetoacetase is an enzyme that in humans is encoded by the FAH gene.^[1]^[2]^[3]

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).^[3]

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

Pathology[edit]

Mutations in the FAH gene cause type I tyrosinemia.

^ Phaneuf D, Labelle Y, Berube D, Arden K, Cavenee W, Gagne R, Tanguay RM (Apr 1991). "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. PMC 1682993. PMID 1998338.
^ Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R (Jun 1990). "Nucleotide sequence of cDNA encoding human fumarylacetoacetase". Nucleic Acids Res 18 (7): 1887. doi:10.1093/nar/18.7.1887. PMC 330610. PMID 2336361.
^ ^a ^b "Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)".

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)

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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

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

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

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」

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
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