- Fumarylacetoacetate hydrolase
Fumarylacetoacetate hydrolase (fumarylacetoacetase), also known as FAH, is a human
gene .cite web | title = Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2184| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes the last enzyme in thetyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditarytyrosinemia (HT).cite web | title = Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2184| accessdate = ]Fumarylacetoacetate hydrolase is an
enzyme which catalyzes thehydrolysis of4-fumarylacetoacetate intofumarate andacetoacetate .Pathology
Mutations in the FAH gene cause
type I tyrosinemia .References
Further reading
PBB_Further_reading
citations =
*cite journal | author=St-Louis M, Tanguay RM |title=Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. |journal=Hum. Mutat. |volume=9 |issue= 4 |pages= 291–9 |year= 1997 |pmid= 9101289 |doi= 10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9 |doilabel=10.1002/(SICI)1098-1004(1997)9:4291::AID-HUMU13.0.CO;2-9
*cite journal | author=Phaneuf D, Lambert M, Laframboise R, "et al." |title=Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. |journal=J. Clin. Invest. |volume=90 |issue= 4 |pages= 1185–92 |year= 1992 |pmid= 1401056 |doi=
*cite journal | author=Phaneuf D, Labelle Y, Bérubé D, "et al." |title=Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. |journal=Am. J. Hum. Genet. |volume=48 |issue= 3 |pages= 525–35 |year= 1991 |pmid= 1998338 |doi=
*cite journal | author=Agsteribbe E, van Faassen H, Hartog MV, "et al." |title=Nucleotide sequence of cDNA encoding human fumarylacetoacetase. |journal=Nucleic Acids Res. |volume=18 |issue= 7 |pages= 1887 |year= 1990 |pmid= 2336361 |doi=
*cite journal | author=Tanguay RM, Valet JP, Lescault A, "et al." |title=Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). |journal=Am. J. Hum. Genet. |volume=47 |issue= 2 |pages= 308–16 |year= 1990 |pmid= 2378356 |doi=
*cite journal | author=Laberge C, Grenier A, Valet JP, Morissette J |title=Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. |journal=Am. J. Hum. Genet. |volume=47 |issue= 2 |pages= 325–8 |year= 1990 |pmid= 2378358 |doi=
*cite journal | author=Kvittingen EA, Halvorsen S, Jellum E |title=Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. |journal=Pediatr. Res. |volume=17 |issue= 7 |pages= 541–4 |year= 1983 |pmid= 6622096 |doi=
*cite journal | author=Kvittingen EA, Jellum E, Stokke O |title=Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. |journal=Clin. Chim. Acta |volume=115 |issue= 3 |pages= 311–9 |year= 1982 |pmid= 7296877 |doi=
*cite journal | author=Hahn SH, Krasnewich D, Brantly M, "et al." |title=Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. |journal=Hum. Mutat. |volume=6 |issue= 1 |pages= 66–73 |year= 1995 |pmid= 7550234 |doi= 10.1002/humu.1380060113
*cite journal | author=St-Louis M, Poudrier J, Phaneuf D, "et al." |title=Two novel mutations involved in hereditary tyrosinemia type I. |journal=Hum. Mol. Genet. |volume=4 |issue= 2 |pages= 319–20 |year= 1995 |pmid= 7757089 |doi=
*cite journal | author=Kato S, Sekine S, Oh SW, "et al." |title=Construction of a human full-length cDNA bank. |journal=Gene |volume=150 |issue= 2 |pages= 243–50 |year= 1995 |pmid= 7821789 |doi=
*cite journal | author=Rootwelt H, Berger R, Gray G, "et al." |title=Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. |journal=Am. J. Hum. Genet. |volume=55 |issue= 4 |pages= 653–8 |year= 1994 |pmid= 7942842 |doi=
*cite journal | author=Rootwelt H, Brodtkorb E, Kvittingen EA |title=Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. |journal=Am. J. Hum. Genet. |volume=55 |issue= 6 |pages= 1122–7 |year= 1994 |pmid= 7977370 |doi=
*cite journal | author=Rootwelt H, Chou J, Gahl WA, "et al." |title=Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. |journal=Hum. Genet. |volume=93 |issue= 6 |pages= 615–9 |year= 1994 |pmid= 8005583 |doi=
*cite journal | author=Grompe M, St-Louis M, Demers SI, "et al." |title=A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. |journal=N. Engl. J. Med. |volume=331 |issue= 6 |pages= 353–7 |year= 1994 |pmid= 8028615 |doi=
*cite journal | author=St-Louis M, Leclerc B, Laine J, "et al." |title=Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. |journal=Hum. Mol. Genet. |volume=3 |issue= 1 |pages= 69–72 |year= 1994 |pmid= 8162054 |doi=
*cite journal | author=Grompe M, al-Dhalimy M |title=Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. |journal=Hum. Mutat. |volume=2 |issue= 2 |pages= 85–93 |year= 1993 |pmid= 8318997 |doi= 10.1002/humu.1380020205
*cite journal | author=Labelle Y, Phaneuf D, Leclerc B, Tanguay RM |title=Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. |journal=Hum. Mol. Genet. |volume=2 |issue= 7 |pages= 941–6 |year= 1993 |pmid= 8364576 |doi=
*cite journal | author=Labelle Y, Puymirat J, Tanguay RM |title=Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1. |journal=Biochim. Biophys. Acta |volume=1180 |issue= 3 |pages= 250–6 |year= 1993 |pmid= 8422430 |doi=
*cite journal | author=Ploos van Amstel JK, Bergman AJ, van Beurden EA, "et al." |title=Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. |journal=Hum. Genet. |volume=97 |issue= 1 |pages= 51–9 |year= 1996 |pmid= 8557261 |doi=External links
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