AAC73008.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
40,497 Da
NCBI Official Full Name
4-hydroxyphenylpyruvate-dioxygenase
NCBI Official Synonym Full Names
4-hydroxyphenylpyruvate dioxygenase
NCBI Official Synonym Symbols
PPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE [Similar Products]
NCBI Protein Information
4-hydroxyphenylpyruvate dioxygenase; glyoxalase domain containing 3; 4-hydroxyphenylpyruvic acid oxidase
UniProt Protein Name
4-hydroxyphenylpyruvate dioxygenase
UniProt Synonym Protein Names
4-hydroxyphenylpyruvic acid oxidase; 4HPPD; HPD; HPPDase
UniProt Synonym Gene Names
UniProt Entry Name
HPPD_HUMAN
NCBI Summary for HPD
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]
UniProt Comments for HPD
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: Oxidoreductase; EC 1.13.11.27; Amino Acid Metabolism - tyrosine; Cofactor and Vitamin Metabolism - ubiquinone and other terpenoid-quinone biosynthesis; Amino Acid Metabolism - phenylalanine
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
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Diseases associated with HPD elisa kit
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