FAH


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, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
fumarylacetoacetate hydrolaseMIM:613871Ensembl:ENSG00000103876HGNC:HGNC:3579PA2797715q25.1

GO terms in FAH


Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005829cytosol
CCHDAGO:0070062extracellular exosome
BPIEAGO:0006527arginine catabolic process
BPIEAGO:0006559L-phenylalanine catabolic process
BPTASGO:0006559L-phenylalanine catabolic process
BPIEAGO:0006572tyrosine catabolic process
MFEXPGO:0004334fumarylacetoacetase activity
MFIPIGO:0005515protein binding
MFIEAGO:0046872metal ion binding

Gene expression in normal tissue: FAH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FAH


DatabasePathway IDPathway Des.
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-6788656Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
reactomeR-HSA-71182Phenylalanine and tyrosine catabolism
reactomeR-HSA-71291Metabolism of amino acids and derivatives
kegghsa00350Tyrosine metabolism - Homo sapiens (human)
humancycTYRFUMCAT-PWYtyrosine degradation
smpdbSMP00006Tyrosine Metabolism
smpdbSMP00008Phenylalanine and Tyrosine Metabolism
smpdbSMP00169Alkaptonuria
smpdbSMP00190Hawkinsinuria
smpdbSMP00206Phenylketonuria
smpdbSMP00218Tyrosinemia Type I
smpdbSMP00369Tyrosinemia Type 2 (or Richner-Hanhart syndrome)
smpdbSMP00370Tyrosinemia Type 3 (TYRO3)
smpdbSMP00429Disulfiram Action Pathway
smpdbSMP00494Tyrosinemia, transient, of the newborn
smpdbSMP00498Dopamine beta-hydroxylase deficiency
smpdbSMP00533Monoamine oxidase-a deficiency (MAO-A)
wikipathwaysWP3925Amino Acid metabolism

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FAH

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