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Description for Protein FAH

fumarylacetoacetate hydrolase (fumarylacetoacetase)
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(platelet: 2; secretome: 1)
Summary:
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.7.1.2
KEGG - Orthology:
K01555
KEGG - Pathway(s):
hsa00350; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Fumarylacetoacetate hydrolase; Beta-diketonase; EC 3.7.1.2; FAA
Approved Symbol:
FAH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid(db);
  • Acetate Ion(db);
  • Acetoacetic Acid(db);
  • Cacodylate Ion(db);
  • Fumarate(db)

    Associated Genetic Diseases:

  • Fumarylacetoacetase pseudodeficiency(Pd);
  • Tyrosinemia, type I(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02040 Entrez Gene ID: 2184 OMIM ID: 276700 Swissprot Accession: P16930;