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]
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.
DISEASE:
Defects in SLC5A2 are the cause of renal glucosuria (GLYS1) [MIM:23620]. GLYS1 is an autosomal recessive disorder characterized by a normal fasting serum glucose concentration and persistent isolated glucosuria, with a normal glucose tolerance test.
Similarity:
Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
SWISS:
P31639
Gene ID:
6524
Database links:
Entrez Gene: 6524 Human
Entrez Gene: 399136 Cow
Entrez Gene: 492301 Dog
Entrez Gene: 246787 Mouse
Entrez Gene: 64522 Rat
Omim: 182381 Human
SwissProt: P31639 Human
SwissProt: Q923I7 Mouse
SwissProt: P26430 Rabbit
SwissProt: P53792 Rat
Unigene: 709195 Human
Unigene: 38870 Mouse
Unigene: 5887 Rat
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