APRT : adenine phosphoribosyltransferase
Description
The APRT gene provides instructions for making adenine phosphoribosyltransferase, an enzyme crucial for purine metabolism. This enzyme plays a vital role in recycling purine bases, such as adenine, back into usable nucleotides. These nucleotides are essential building blocks for DNA and RNA, critical for cell growth, repair, and function. A deficiency in APRT can disrupt purine metabolism, leading to the accumulation of adenine and its byproducts in various tissues, particularly the kidneys, resulting in health complications.
Associated Diseases
Did you know?
APRT deficiency is a rare genetic disorder, affecting approximately 1 in 100,000 individuals.
