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) |