Fumarylacetoacetate hydrolase

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Fumarylacetoacetate hydrolase (fumarylacetoacetase)
Identifiers
Symbol(s) FAH;
External IDs OMIM: 276700 MGI: 95482 HomoloGene: 110
EC number 3.7.1.2
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2184 14085
Ensembl ENSG00000103876 ENSMUSG00000030630
Uniprot P16930 Q3TY87
Refseq NM_000137 (mRNA)
NP_000128 (protein)		 NM_010176 (mRNA)
NP_034306 (protein)
Location Chr 15: 78.23 - 78.27 Mb Chr 7: 84.46 - 84.48 Mb
Pubmed search [1] [2]

Fumarylacetoacetate hydrolase (fumarylacetoacetase), also known as FAH, is a human gene.[1]

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

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

Contents

[edit] Pathology

Mutations in the FAH gene cause type I tyrosinemia.

[edit] References

  1. ^ a b Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase).

[edit] 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. PMID 1401056. 
  • Phaneuf D, Labelle Y, Bérubé D, et al. (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. PMID 1998338. 
  • Agsteribbe E, van Faassen H, Hartog MV, et al. (1990). "Nucleotide sequence of cDNA encoding human fumarylacetoacetase.". Nucleic Acids Res. 18 (7): 1887. PMID 2336361. 
  • 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. 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. 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. 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. 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. PMID 7757089. 
  • Kato S, Sekine S, Oh SW, et al. (1995). "Construction of a human full-length cDNA bank.". Gene 150 (2): 243–50. 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. 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. 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. 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. 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. 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. 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, Bergman AJ, van Beurden EA, et al. (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. 
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[edit] External links

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v • d • e
Carbon-carbon hydrolases (EC 3.7)
Fumarylacetoacetate hydrolase - Kynureninase
v • d • e
Metabolism: amino acid metabolism - synthesis and catabolism enzymes (essential in CAPS)
K→acetyl-CoA
(see below)
G→pyruvate
G→glutamate
G→propionyl-CoA
→succinyl-CoA→TCA
G→fumarate
G→oxaloacetate
Other