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SLC2A9 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC2A9 gene

The SLC2A9 gene provides instructions for the GLUT9 protein, which regulates the levels of urate in the blood and urine.

Normal Function

The SLC2A9 gene provides instructions for making a protein called glucose transporter 9 (GLUT9). This protein is found mainly in the kidneys, specifically in structures called proximal tubules. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete unneeded substances into the urine. Within the proximal tubules, the GLUT9 protein helps reabsorb or excrete a substance called urate. Urate is a byproduct of certain normal biochemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals.

The GLUT9 protein also plays a role in reabsorbing and excreting the simple sugar glucose.

Health Conditions Related to Genetic Changes

Renal hypouricemia

At least 17 mutations in the SLC2A9 gene have been found to cause renal hypouricemia. This condition results in a reduced amount of urate in the blood. Renal hypouricemia often does not cause any health problems but can lead to:

  • Kidney stones
  • Blood in the urine (hematuria)
  • Pain and nausea after exercise

Gout

Genetic changes in the SLC2A9 gene are associated with a condition called gout, which is a form of arthritis. Gout develops when elevated urate levels in the blood (hyperuricemia) lead to the formation of urate crystals in joints, triggering an inflammatory response from the immune system.

SLC2A9 gene changes associated with gout likely increase the production of a form of the GLUT9 protein that is 28 amino acids shorter than the full-length version. This shorter version of GLUT9 reabsorbs urate into the bloodstream more readily than the full length version, raising urate levels in the blood and reducing its release into the urine.

Other Names for This Gene

  • glucose transporter type 9
  • GLUT-9
  • GLUT9
  • GLUTX
  • human glucose transporter-like protein-9
  • solute carrier family 2 (facilitated glucose transporter), member 9
  • solute carrier family 2, facilitated glucose transporter member 9
  • UAQTL2
  • urate voltage-driven efflux transporter 1
  • URATv1

Frequently Asked Questions

While renal hypouricemia often causes no symptoms, individuals can experience kidney stones, blood in the urine (hematuria), and episodes of pain and nausea, particularly after strenuous exercise. In some cases, it can also be associated with gout.
To manage and prevent complications like kidney stones, it's crucial to maintain good hydration by drinking plenty of fluids throughout the day. Avoiding excessive exercise, especially in hot environments, may also help reduce the risk of symptoms like pain and nausea. Your doctor might also recommend dietary adjustments.
Treatment for gout associated with SLC2A9 gene changes follows standard gout management principles. This typically involves medications to relieve acute attacks (like NSAIDs or colchicine) and long-term medications (such as allopurinol or febuxostat) to lower blood urate levels and prevent future attacks and crystal formation. Lifestyle modifications, including diet and hydration, are also important.
The SLC2A9 gene's GLUT9 protein regulates urate levels. Some mutations reduce the protein's ability to reabsorb urate in the kidneys, leading to excessive urate excretion and low blood urate (renal hypouricemia). Other specific changes in the SLC2A9 gene, particularly those leading to a shorter version of the GLUT9 protein, are associated with increased urate levels in the blood (hyperuricemia) and the development of gout.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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