Fumarylacetoacetate hydrolase

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Fumarylacetoacetate hydrolase (fumarylacetoacetase)
Identifiers
Symbol FAH
External IDs OMIM613871 MGI95482 HomoloGene110 GeneCards: FAH Gene
EC number 3.7.1.2
RNA expression pattern
PBB GE FAH 202862 at tn.png
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.[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.

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)". 

External links[edit]

Further reading[edit]