Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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The human gene SLC5A2 encodes a sodium-dependent glucose transporter (SGLT2), expressed in many tissues but primarily in the kidney, specifically S1 and S2 proximal tubule segments. It is a low affinity, high capacity transporter of glucose across the apical membrane, with co-transport of Na+ ions in a 1:1 ratio and is the main transporter of glucose in the kidney, responsible for approximately 98% of glucose reabsorption (reaminder by SGLT1). Defects in SLC5A2 are the cause of renal glucosuria (GLYS1; MIM:233100), an autosomal recessive renal tubular disorder characterised by glucosuria in the absence of both hyperglycemia and generalized proximal tubular dysfunction. Mutations that cause GLYS1 include W440*, Q167fs*186, N654S and R479G (van den Heuvel et al. 2002, Calado et al. 2004, Yu et al. 2011).
Literature References
PubMed ID Title Journal Year
12436245 Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

Assink, K, Monnens, L, van den Heuvel, LP, Willemsen, M

Hum. Genet. 2002
21165652 Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients

Zhang, H, Hou, P, Zhou, XJ, Zhu, L, Lv, JC, Yu, L

Hum. Genet. 2011
14614622 Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

Rueff, J, Clemente, C, Soto, K, Correia, P, Calado, J

Hum Genet 2004
Catalyst Activity

glucose:sodium symporter activity of SLC5A2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC5A2 mutants [plasma membrane]

Name Identifier Synonyms
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
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