Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)

The human SLC2A9 gene encodes the class II facilitative glucose transporter 9 (GLUT9). SLC2A9 is expressed mainly in kidney (proximal tubules of epithelial cells) and liver. SLC2A9 is a bona fide urate transporter (uric acid), but also the uptake of fructose (Fru) and glucose (Glc) at a low rate. Uric acid is the end product of purine metabolism in humans and great apes. Defects in SLC2A9 can cause renal hypouricemia 2 (RHUC2), a common inherited disorder characterised by impaired renal urate reabsorption and resultant low serum urate levels. Some patients present with severe complications, such as exercise-induced acute kidney injury (EIAKI) and nephrolithiasis (Esparza Martin & Garcia Nieto 2011, Sebesta 2012, Shen et al. 2014).

Summary from Reactome (R-HSA-5619047), read 2026-09-23.