SLC2A9

SLC2A9 is a gene that encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. SLC2A9, also known as GLUT9, is a high-capacity urate transporter present in the kidneys and the liver.

Function

SLC2A9 is involved in the transport of glucose and urate in the body. It is a major regulator of urate homeostasis and has a significant role in gout pathogenesis. The protein encoded by this gene is a voltage-driven transporter that excretes uric acid. It is expressed in many tissues, with the highest levels in the liver and kidneys.

Clinical significance

Mutations in the SLC2A9 gene have been associated with hyperuricemia and gout. Gout is a common form of inflammatory arthritis that is caused by the deposition of urate crystals in the joint. Hyperuricemia, an abnormally high level of uric acid in the blood, is a major risk factor for gout.

Research

Research into the SLC2A9 gene and its function has increased our understanding of the mechanisms of urate transport and its role in disease. Studies have shown that variants in this gene are associated with renal underexcretion of uric acid, which can lead to hyperuricemia and gout.

See also

• Facilitative glucose transporter
• Gout
• Hyperuricemia

References

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