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Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
Summary
- Organism
- Homo sapiens (human)
- Reactome
- R-HSA-5656364
- PubChem
- R-HSA-5656364
- Description
-
- 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).
Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.
G15021LG
