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Reviewed August 2015
What is the official name of the HPD gene?
The official name of this gene is “4-hydroxyphenylpyruvate dioxygenase.”
HPD is the gene's official symbol. The HPD gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the HPD gene?
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.
How are changes in the HPD gene related to health conditions?
Where is the HPD gene located?
Cytogenetic Location: 12q24.31
Molecular Location on chromosome 12: base pairs 121,839,527 to 121,888,611
The HPD gene is located on the long (q) arm of chromosome 12 at position 24.31.
More precisely, the HPD gene is located from base pair 121,839,527 to base pair 121,888,611 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HPD?
You and your healthcare professional may find the following resources about HPD helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the HPD gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding HPD?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)