Description
Product Characteristics: FUNCTION: Sodium-dependent glucose transporter. Has a Na+ to glucose coupling ratio of 1:1. 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. Involvement in disease: Defects in SLC5A2 are the cause of renal glucosuria (GLYS1). GLYS1 is an autosomal recessive disorder characterized by a normal fasting serum glucose concentration and persistent isolated glucosuria, with a normal glucose tolerance test.,SLC5 Family,Sodium/glucose cotransporter 2, Na(+)/glucose cotransporter 2, Low affinity sodium-glucose cotransporter, Solute carrier family 5 member 2, SGLT2
Target Information: 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. [provided by RefSeq, Sep 2009]