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HPD

Official Full Name
4-hydroxyphenylpyruvate dioxygenase
Organism
Homo sapiens
GeneID
3242
Background
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Synonyms
PPD; HPPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE;

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