Fumarylacetoacetate hydrolase

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.

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.