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HPD 4-hydroxyphenylpyruvate dioxygenase

Also known as: PPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE

Summary

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]

Genomic context

Location:
12q24.31
Sequence:
Chromosome: 12; NC_000012.12 (121839527..121888611, complement)
Total number of exons:
17

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