Entity Details

Primary name HPD
Entity type gene
Source Source Link

Details

PrimaryID3242
RefseqGeneNG_016461
SymbolHPD
Name4-hydroxyphenylpyruvate dioxygenase
Chromosome12
Location12q24.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-06-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHPPD_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006559 L-phenylalanine catabolic process
GO:0006572 tyrosine catabolic process
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
140350 OMIMHawkinsinuria (HAWK)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. The disease is caused by variants affecting the gene represented in this entry.
276710 OMIMTyrosinemia 3 (TYRSN3)An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. The disease is caused by variants affecting the gene represented in this entry.

Interactions

14 interactions