Defective SLC2A9 does not transport Fru, Glc, urate

Stable Identifier
R-HSA-5638209
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region, plasma membrane
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Defective SLC2A9 does not transport Fru, Glc, urate
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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
19026395 Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

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

Am. J. Hum. Genet. 2008
19926891 Homozygous SLC2A9 mutations cause severe renal hypouricemia

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

J. Am. Soc. Nephrol. 2010
22527535 Acute kidney injury in two children caused by renal hypouricaemia type 2

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

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

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

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

BMC Pediatr 2014
Participants
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Participates
as an event of
Catalyst Activity

transmembrane transporter activity of SLC2A9 mutants [plasma membrane]

Physical Entity
SLC2A9 mutants [plasma membrane] (Homo sapiens)
Activity
transmembrane transporter activity (GO:0022857)
Normal reaction
SLC2A9 transports Fru, Glc, urate (Homo sapiens)
Functional status

Loss of function of SLC2A9 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
Authored
Jassal, B  (2014-11-13)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-11-13)
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