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HPD 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.
Gene Name: | 4-hydroxyphenylpyruvate dioxygenase |
Synonyms: | HPD, 4HPPD, 4-HPPD, GLOD3, HPPDASE, PPD, Glyoxalase domain containing 3 |
Target Sequences: | NM_002150 NP_002141.1 P32754 |
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