Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)

Stable Identifier
R-HSA-5656364
Type
Pathway
Species
Homo sapiens
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Sodium/glucose cotransporter 1 (SLC5A1 aka SGLT1) actively and reversibly transports glucose (Glc) into cells by Na+ cotransport with a Na+ to glucose coupling ratio of 2:1. SLC5A1 is mainly expressed in the microvilli of intestine and kidney and responsible for the absorption of sugars. Overexpressed SLC5A1 has been found in various cancers, possibly playing a role in preventing autophagic cell death by maintaining intracellular glucose levels. Defects in SLC5A1 can cause congenital glucose/galactose malabsorption (GGM; MIM:606824), an autosomal recessive disorder manifesting itself in newborns characterised by severe, life-threatening diarrhea which is usually fatal unless glucose and galactose are removed from the diet (Wright et al. 2002, Bergeron et al. 2008, Wright et al. 2007, Wright 2013).

Literature References
PubMed ID Title Journal Year
12139397 Molecular basis for glucose-galactose malabsorption

Wright, EM, Turk, E, Martin, MG

Cell Biochem. Biophys. 2002
17222166 Active sugar transport in health and disease

Wright, EM, Hirayama, BA, Loo, DF

J Intern Med 2007
23506865 Glucose transport families SLC5 and SLC50

Wright, EM

Mol. Aspects Med. 2013
18415698 Inherited epithelial transporter disorders--an overview

Bergeron, MJ, Simonin, A, B├╝rzle, M, Hediger, MA

J. Inherit. Metab. Dis. 2008
Participants
Participant Of
Disease
Name Identifier Synonyms
glucose intolerance 10603 Malabsorption of glucose (disorder), Glucose: [intolerance] or [malabsorption]
Cross References
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