Defective SLC2A9 does not transport Fru, Glc, urate

Stable Identifier
R-HSA-5638209
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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 mediates the transport of urate (uric acid), the end product of purine metabolism in humans and great apes. In addition it mediates the uptake of fructose (Fru) and glucose (Glc) at a low rate. 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. Mutations in SLC2A9 that cause RHUC2 include R380W, R198C, L75R, R171C, T125M, G216R and W23* (Matsuo et al. 2008, Dinour et al. 2010, Dinour et al. 2012, Stiburkova et al. 2012, Shen et al. 2014).

Literature References
PubMed ID Title Journal Year
19926891 Homozygous SLC2A9 mutations cause severe renal hypouricemia

Dinour, D, Gray, NK, Campbell, S, Shu, X, Sawyer, L, Richardson, W, Rechavi, G, Amariglio, N, Ganon, L, Sela, BA, Bahat, H, Goldman, M, Weissgarten, J, Millar, MR, Wright, AF, Holtzman, EJ

J. Am. Soc. Nephrol. 2010
19026395 Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

Matsuo, H, Chiba, T, Nagamori, S, Nakayama, A, Domoto, H, Phetdee, K, Wiriyasermkul, P, Kikuchi, Y, Oda, T, Nishiyama, J, Nakamura, T, Morimoto, Y, Kamakura, K, Sakurai, Y, Nonoyama, S, Kanai, Y, Shinomiya, N

Am. J. Hum. Genet. 2008
22527535 Acute kidney injury in two children caused by renal hypouricaemia type 2

Stiburkova, B, Taylor, J, Marinaki, AM, Sebesta, I

Pediatr. Nephrol. 2012
21810765 Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2

Dinour, D, Gray, NK, Ganon, L, Knox, AJ, Shalev, H, Sela, BA, Campbell, S, Sawyer, L, Shu, X, Valsamidou, E, Landau, D, Wright, AF, Holtzman, EJ

Nephrol. Dial. Transplant. 2012
24628802 Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

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

BMC Pediatr 2014
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
transmembrane transporter activity of SLC2A9 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
renal tubular transport disease 447 inborn renal tubular transport disorder
Authored
Reviewed
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