| Gene Symbol | HPD |
| Entrez Gene ID | 3242 |
| Full Name | 4-hydroxyphenylpyruvate dioxygenase |
| Synonyms | 4-HPPD,4HPPD,GLOD3,HPPDASE,PPD |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Tyrosinemia, type III, 276710 (3); Hawkinsinuria, 140350 (3) |
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