Aliases for HPD Gene
External Ids for HPD Gene
Previous HGNC Symbols for HPD Gene
Previous GeneCards Identifiers for HPD Gene
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]
GeneCards Summary for HPD Gene
HPD (4-Hydroxyphenylpyruvate Dioxygenase) is a Protein Coding gene. Diseases associated with HPD include Tyrosinemia, Type Iii and Hawkinsinuria. Among its related pathways are Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen and 4-hydroxyphenylpyruvate dioxygenase activity. An important paralog of this gene is HPDL.
UniProtKB/Swiss-Prot Summary for HPD Gene
Key enzyme in the degradation of tyrosine.