Defective SLC5A2 causes renal glucosuria (GLYS1)

Stable Identifier
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. Establishing definite genotype–phenotype correlations for GLYS1 is made difficult by variable expression of SLC5A2 and because other genes may have an impact on overall renal glucose resorption. Drugs that inhibit SLC5A2 are used to treat type 2 diabetes (T2D). The strategy to reduce hyperglycemia in T2D is to target renal glucose reabsorption by inhibiting SLC5A2 (Santer & Calado 2010, Calado et al. 2011).
Literature References
PubMed ID Title Journal Year
19965550 Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target

Santer, R, Calado, J

Clin J Am Soc Nephrol 2010
21358700 Effect of kidney disease on glucose handling (including genetic defects)

Santer, R, Calado, J, Rueff, J

Kidney Int. Suppl. 2011
Name Identifier Synonyms
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
Cross References
BioModels Database
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