SLC5A2

SLC5A2 is a gene that encodes a protein known as sodium/glucose cotransporter 2 (SGLT2). This protein plays a crucial role in the reabsorption of glucose from the kidney back into the bloodstream. Mutations in this gene can lead to conditions such as renal glucosuria and can affect the efficacy of certain diabetes medications.

Function

The SLC5A2 gene provides instructions for making a protein called sodium/glucose cotransporter 2. This protein is found primarily in the kidney, where it helps to reabsorb glucose (a simple sugar) back into the bloodstream. The protein uses the energy from sodium ions moving down their concentration gradient to transport glucose against its concentration gradient. This process is a form of active transport.

Clinical significance

Mutations in the SLC5A2 gene can lead to a condition known as renal glucosuria. This condition is characterized by the presence of glucose in the urine, despite normal or low blood glucose levels. It is typically a benign condition, but can sometimes be associated with other kidney problems.

The SLC5A2 protein is also the target of a class of diabetes medications known as SGLT2 inhibitors. These drugs work by blocking the function of the SLC5A2 protein, preventing the reabsorption of glucose and causing it to be excreted in the urine instead. This helps to lower blood glucose levels in people with type 2 diabetes.

See also

• Sodium-glucose transport proteins
• Renal glucosuria
• SGLT2 inhibitors
• Type 2 diabetes

References

SLC5A2 Resources
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