guaninedeaminase

Guaninedeaminase, also known as guanine aminohydrolase or GD, is an enzyme that catalyzes the conversion of guanine to xanthine. This reaction is a crucial step in the purine catabolism pathway, a metabolic process responsible for the breakdown of purine nucleotides. Guanine itself is a purine nucleobase, a component of DNA and RNA.

The enzyme belongs to the hydrolase superfamily, specifically acting on carbon-nitrogen bonds. In humans, guaninedeaminase is encoded by the GDA gene. It is primarily found in the liver and kidneys, organs heavily involved in metabolic processes and waste excretion. The activity of guaninedeaminase is important for maintaining purine homeostasis and preventing the accumulation of guanine, which can lead to various health issues.

Mutations in the GDA gene have been associated with certain metabolic disorders. For instance, deficiencies in guaninedeaminase activity can impair the breakdown of guanine, potentially contributing to conditions like hyperuricemia, a state of abnormally high uric acid levels in the blood. Research into guaninedeaminase continues to explore its precise role in purine metabolism and its implications for human health and disease.