SLC5A2, SGLT2, Sodium/glucose cotransporter 2, Na(+)/glucose cotransporter 2, Low affinity sodium-glucose cotransporter, Solute carrier family 5 member 2
This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015],disease:Defects in SLC5A2 are the cause of renal glucosuria (GLYS1) [MIM:233100]. GLYS1 is an autosomal recessive disorder characterized by a normal fasting serum glucose concentration and persistent isolated glucosuria, with a normal glucose tolerance test.,function: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.,function:Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1.,similarity:Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.,
