The HPD gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is second in a series of five enzymes that work to break down the amino acid tyrosine, a protein building block found in many foods. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Continuing the process, homogentisic acid is further broken down and ultimately smaller molecules are produced that are either excreted by the kidneys or used to produce energy or make other substances in the body.
Other Names
4-HPPD; 4HPPD; GLOD3; HPPD_HUMAN; P-hydroxyphenylpyruvate hydroxylase; P-hydroxyphenylpyruvate oxidase; PPD
Related Genetics Topics
Identifiers
- NCBI Gene: 3242
- OMIM: 140350
- OMIM: 609695
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
