{"symbol":"HPD","synonyms":["4HPPD","PPD","HPPDASE","4-HPPD","GLOD3"],"name":"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]","ncbiEntrezGeneId":3242,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3242","proteins":[{"symbol":"HPPD_HUMAN","href":"/api/1.0/protein/HPPD_HUMAN"}],"hgncRootFamilies":[]}