Defective SLC5A1 does not cotransport Glc and Na+

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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
8195156 Structure of the human Na+/glucose cotransporter gene SGLT1

Martín, MG, Turk, E, Wright, EM

J. Biol. Chem. 1994
12139397 Molecular basis for glucose-galactose malabsorption

Martin, MG, Turk, E, Wright, EM

Cell Biochem. Biophys. 2002
Catalyst Activity

glucose:sodium symporter activity of SLC5A1 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC5A1 mutants [plasma membrane]

Name Identifier Synonyms
glucose intolerance DOID:10603 Malabsorption of glucose (disorder), Glucose: [intolerance] or [malabsorption]
Cite Us!