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Reviewed March 2007
What is the official name of the HGD gene?
The official name of this gene is “homogentisate 1,2-dioxygenase.”
HGD is the gene's official symbol. The HGD 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 HGD gene?
The HGD gene provides instructions for making an enzyme called homogentisate oxidase, which is active chiefly in the liver and kidneys. This enzyme participates in a step-wise process that breaks down two protein building blocks (amino acids), phenylalanine and tyrosine, when they are no longer needed or are present in excess. These two amino acids also play a role in making certain hormones, pigments, and brain chemicals called neurotransmitters.
Homogentisate oxidase is responsible for a specific step in the breakdown of phenylalanine and tyrosine. Previous steps convert the two amino acids into a molecule called homogentisic acid. Homogentisate oxidase adds two oxygen atoms to homogentisic acid, converting it to another molecule called maleylacetoacetate. Other enzymes break down maleylacetoacetate into smaller molecules that are later used for energy or to make other products that can be used by the body.
How are changes in the HGD gene related to health conditions?
Where is the HGD gene located?
Cytogenetic Location: 3q13.33
Molecular Location on chromosome 3: base pairs 120,628,167 to 120,682,570
The HGD gene is located on the long (q) arm of chromosome 3 at position 13.33.
More precisely, the HGD gene is located from base pair 120,628,167 to base pair 120,682,570 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HGD?
You and your healthcare professional may find the following resources about HGD 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 HGD 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 HGD?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.