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MGP001492

UniProt Annotations

Entry Information
Gene Name4-hydroxyphenylpyruvate dioxygenase
Protein EntryHPPD_HUMAN
UniProt IDP32754
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P32754-1; Sequence=Displayed; Name=2; IsoId=P32754-2; Sequence=VSP_044302;
Catalytic Activity4-hydroxyphenylpyruvate + O(2) = homogentisate + CO(2).
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250}; Note=Binds 1 Fe cation per subunit. {ECO:0000250};
DiseaseHawkinsinuria (HAWK) [MIM:140350]: An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. {ECO:0000269|PubMed:11073718}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseTyrosinemia 3 (TYRSN3) [MIM:276710]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. {ECO:0000269|PubMed:10942115, ECO:0000269|PubMed:11073718}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionKey enzyme in the degradation of tyrosine.
PathwayAmino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 3/6.
SimilarityBelongs to the 4HPPD family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|Ref.10}.
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