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FLASH GENE
Symbol FAH contributors: mct - updated : 06-04-2011
HGNC name fumarylacetoacetate hydrolase (fumarylacetoacetase)
HGNC id 3579
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
Homologene
FAMILY fumarylacetoacetate (FAA) hydrolase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • catalyzing the fifth step of tyrosine catabolism
  • succinylacetone (SA) and p-hydroxyphenylpyruvate (pHPPA) accumulated in hereditary tyrosinemia, have an impairing effect on both BER (Base excision repair) and NER (nucleotide excision repair)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FAHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS