ID:FAAA_HUMAN DESCRIPTION: RecName: Full=Fumarylacetoacetase; Short=FAA; EC=3.7.1.2; AltName: Full=Beta-diketonase; AltName: Full=Fumarylacetoacetate hydrolase; CATALYTIC ACTIVITY: 4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate. COFACTOR: Calcium (By similarity). COFACTOR: Magnesium (By similarity). PATHWAY: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6. SUBUNIT: Homodimer. TISSUE SPECIFICITY: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues. DISEASE: Defects in FAH are the cause of tyrosinemia type 1 (TYRO1) [MIM:276700]. An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. SIMILARITY: Belongs to the FAH family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FAH";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P16930
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006527 arginine catabolic process GO:0006559 L-phenylalanine catabolic process GO:0006572 tyrosine catabolic process GO:0008152 metabolic process GO:0009072 aromatic amino acid family metabolic process
BioCarta from NCI Cancer Genome Anatomy Project h_bard1Pathway - BRCA1-dependent Ub-ligase activity h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
Reactome (by CSHL, EBI, and GO)
Protein P16930 (Reactome details) participates in the following event(s):
R-HSA-71181 fumarylacetoacetate => fumarate + acetoacetate R-HSA-71182 Phenylalanine and tyrosine catabolism R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism R-HSA-71291 Metabolism of nitrogenous molecules R-HSA-1430728 Metabolism
US Server
