Defective SLC5A1 does not cotransport Glc and Na+

Stable Identifier
R-HSA-5656356
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. Mutations that cause GGM include D28N, D28G, Y191*, R379*, R135W, G100V and Q457R (Turk et al. 1994, Wright et al. 2002).

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

Wright, EM, Turk, E, Martin, MG

Cell Biochem. Biophys. 2002
8195156 Structure of the human Na+/glucose cotransporter gene SGLT1

Turk, E, Martín, MG, Wright, EM

J. Biol. Chem. 1994
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glucose:sodium symporter activity of SLC5A1 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
glucose intolerance 10603 Malabsorption of glucose (disorder), Glucose: [intolerance] or [malabsorption]
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