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Sodium/glucose cotransporter 1
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SC5A1_HUMAN
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High affinity sodium-glucose cotransporter, Na(+)/glucose cotransporter 1, Solute carrier family 5 member 1
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FUNCTION: Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed mainly in intestine and kidney. PTM: N-glycosylation is not necessary for the cotransporter function. DISEASE: Defects in SLC5A1 are the cause of congenital glucose/galactose malabsorption (GGM) [MIM:606824]. GGM is an intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. SIMILARITY: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. GENE SYNONYMS: NAGT SGLT1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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