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hpd

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Official Full Name
4-hydroxyphenylpyruvate dioxygenase
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.
Synonyms
HPD; 4-hydroxyphenylpyruvate dioxygenase; PPD; 4 HPPD; 4HPPD; GLOD3; glyoxalase domain containing 3; 4 hydroxyphenylpyruvate dioxygenase; 4 hydroxyphenylpyruvic acid oxidase; HPPDase; OTTHUMP00000240051; OTTHUMP00000240052; 4-hydroxyphenylpyruvic acid oxidase; 4-HPPD

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