Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)

Stable Identifier
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
23089275 Genetic disorders resulting in hyper- or hypouricemia

Sebesta, I

Adv Chronic Kidney Dis 2012
21270912 Hypouricemia and tubular transport of uric acid

Esparza Martín, N, García Nieto, V

Nefrologia 2011
24628802 Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

Shen, H, Mao, J, Feng, C, Du, L, Liu, A, Gu, W, Fu, H, Shu, Q, Jin, X

BMC Pediatr 2014
Name Identifier Synonyms
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
Cross References
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