SLC22A12

SLC22A12 is a gene that encodes the protein Urate transporter 1 (URAT1), which is primarily involved in the reabsorption of uric acid in the kidneys. This gene is located on the long (q) arm of chromosome 4 at position 23.1.

Function

The SLC22A12 gene provides instructions for making a protein called URAT1. This protein is found in the kidney, where it helps control the amount of uric acid that is removed from the body in urine. URAT1 transports uric acid from the fluid that will become urine back into the cells of the kidney. This reabsorption process ensures that uric acid, which is an antioxidant, remains in the body to help protect cells from damage.

Clinical significance

Mutations in the SLC22A12 gene have been associated with renal hypouricemia type 1, a condition characterized by abnormally low levels of uric acid in the blood and an increased risk of acute kidney injury. Most of the mutations that cause this condition change single protein building blocks (amino acids) in URAT1, which alters the structure of the protein and impairs its ability to transport uric acid.

See also

• Solute carrier family
• Uric acid
• Renal hypouricemia

References

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