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Reviewed October 2012
What is the official name of the APRT gene?
The official name of this gene is “adenine phosphoribosyltransferase.”
APRT is the gene's official symbol. The APRT 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 APRT gene?
The APRT gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT). This enzyme is produced in all cells and is part of the purine salvage pathway, which recycles a group of DNA building blocks (nucleotides) called purines to make other molecules. The APRT enzyme helps to recycle the purine adenine to make a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells.
How are changes in the APRT gene related to health conditions?
Where is the APRT gene located?
Cytogenetic Location: 16q24
Molecular Location on chromosome 16: base pairs 88,809,468 to 88,811,933
The APRT gene is located on the long (q) arm of chromosome 16 at position 24.
More precisely, the APRT gene is located from base pair 88,809,468 to base pair 88,811,933 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about APRT?
You and your healthcare professional may find the following resources about APRT 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 APRT 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 APRT?
acids ; adenine ; allele ; amino acid ; cell ; deficiency ; DNA ; end-stage renal disease ; enzyme ; ESRD ; gene ; kidney ; molecule ; mutation ; protein ; purines ; renal ; renal disease ; stage ; threonine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 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.