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]
Function:
HPD participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. The mechanism of action of HPD involves a decarboxylation step and an oxidation step, followed by a rearrangement step to form homogentisic acid. Alterations in the structure and activity of HPD are causally related to two different metabolic disorders, the recessively inherited tyrosinemia type III and the dominantly inherited hawkinsinuria.
Subcellular Location:
Cytoplasmic
SWISS:
P32754
Gene ID:
3242
Database links:
Entrez Gene: 3242 Human
Entrez Gene: 15445 Mouse
Entrez Gene: 29531 Rat
Omim: 609695 Human
SwissProt: P32754 Human
SwissProt: P49429 Mouse
SwissProt: P32755 Rat
Unigene: 2899 Human
Unigene: 439709 Mouse
Unigene: 3664 Rat
|
|
