Name
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4-hydroxyphenylpyruvate dioxygenase | Cytological Location | 12q24.31 |
Brief Description | 4-hydroxyphenylpyruvate dioxygenase |
Description | 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] |