Protein Name | 4-hydroxyphenylpyruvate dioxygenase |
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Organism | Homo sapiens |
Gene ID | 3242 |
Gene Symbol | HPD |
UniProt | P32754 (HPPD_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
113
Total Number of Articles : 98 |
Description |
4-hydroxyphenylpyruvate dioxygenase |
Gene Summary |
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 |
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Properties | |