UPK1

UPK1, also known as urate transporter 1, is a protein encoded by the SLC2A9 gene in humans. It plays a crucial role in the reabsorption of uric acid in the kidneys. Uric acid is a waste product formed from the breakdown of purines. Normally, the kidneys filter uric acid from the blood and reabsorb most of it back into the bloodstream. UPK1 is a key player in this reabsorption process, specifically in the proximal tubules of the nephrons.

Variations in the SLC2A9 gene can affect the function of UPK1, leading to differences in uric acid levels in the blood. Mutations or polymorphisms in this gene have been associated with gout, a condition characterized by high levels of uric acid, which can lead to the formation of urate crystals in the joints. Individuals with certain genetic variants of UPK1 may excrete less uric acid, resulting in hyperuricemia.

Research into UPK1 has provided significant insights into the genetic underpinnings of gout and hyperuricemia. Understanding its function and genetic variations is important for developing strategies to manage these conditions and potentially identify individuals at higher risk. The protein is also found in other tissues, although its primary role in uric acid transport is in the renal system.