4-Hydroxyphenylpyruvate Dioxygenase (HPD) Human Recombinant Protein

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]

HPD: Key enzyme in the degradation of tyrosine. Defects in HPD are the cause of tyrosinemia type 3 (TYRO3). TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. Defects in HPD are a cause of hawkinsinuria (HAWK). HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. Belongs to the 4HPPD family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - tyrosine; Oxidoreductase; Amino Acid Metabolism - phenylalanine; Cofactor and Vitamin Metabolism - ubiquinone and other terpenoid-quinone biosynthesis; EC 1.13.11.27

Chromosomal Location of Human Ortholog: 12q24.31

Cellular Component: cytosol

Molecular Function: 4-hydroxyphenylpyruvate dioxygenase activity; metal ion binding

Biological Process: L-phenylalanine catabolic process; tyrosine catabolic process

Disease: Hawkinsinuria; Tyrosinemia, Type Iii