Gene: HPD

Alternate names for this Gene: 4-HPPD|4HPPD|GLOD3|HPPDASE|PPD

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: 4-hydroxyphenylpyruvate dioxygenase

Type of Gene: protein-coding

rs144241592 in HPD gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137852865 in HPD gene and Tyrosinemia, Type III PMID 10942115 2000 Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

PMID 11073718 2000 Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.