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Reviewed January 2008
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 one of a series of enzymes needed 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. In reactions with other enzymes in the series, homogentisic acid is broken down to smaller molecules that are either excreted by the kidneys or used to produce energy.
How are changes in the HPD gene related to health conditions?
Where is the HPD gene located?
Cytogenetic Location: 12q24-qter
Molecular Location on chromosome 12: base pairs 122,277,432 to 122,326,516
The HPD gene is located on the long (q) arm of chromosome 12 between position 24 and the end (terminus) of the arm.
More precisely, the HPD gene is located from base pair 122,277,432 to base pair 122,326,516 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 (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.