Entrez gene ID | | 3242 |
Official gene symbol | | HPD |
Full name | | 4-hydroxyphenylpyruvate dioxygenase |
Aliases | | ,4-HPPD,4HPPD,GLOD3,HPPDASE,PPD, |
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] |
Location | | Chromosome: 12 Locus: 12q24-qter |
Gene position | | 122326517 - 122277433 Map Viewer |
Gene orientation | | minus |
Gene size | | 49085 bp |
Gene sequence |
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OMIM ID | | 609695 |