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SLC22A12 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC22A12 gene

The SLC22A12 gene encodes the URAT1 protein, which regulates the balance of urate in the blood and urine.

Normal Function

The SLC22A12 gene provides instructions for making a protein called urate transporter 1 (URAT1). Located in the proximal tubules of the kidneys, this protein helps reabsorb nutrients and water into the blood while excreting waste.

URAT1 specifically manages urate, a byproduct of normal chemical reactions that acts as an antioxidant in the bloodstream. The protein facilitates the exchange of anions to either reabsorb urate into the blood or release it into the urine, depending on the body's requirements.

Health Conditions Related to Genetic Changes

Renal hypouricemia

Mutations in the SLC22A12 gene can cause renal hypouricemia, a condition characterized by low levels of urate in the blood. While often asymptomatic, it can lead to exercise-induced pain, nausea, kidney stones, or blood in the urine.

  • Mechanism: Mutations reduce the ability of the URAT1 protein to reabsorb urate, leading to a shortage in the blood and excessive loss through urine.
  • Impact: The loss of urate's antioxidant properties and the increased concentration of urate passing through the kidneys are believed to contribute to the condition's symptoms.

Other disorders

Variations in the SLC22A12 gene have been associated with gout, a form of arthritis caused by urate crystals in the joints. In these cases, variants may impair the protein's ability to release urate into the urine, causing it to build up in the bloodstream and eventually crystallize in the joints. However, the role of this gene in gout is complex, as it is influenced by a combination of genetic, lifestyle, and environmental factors.

Genomic Location

The SLC22A12 gene is found on chromosome 11.

Frequently Asked Questions

While often asymptomatic, key symptoms to watch for include exercise-induced pain, nausea, the development of kidney stones, or blood in the urine (hematuria). You should seek medical attention if you experience any of these symptoms, especially if they are recurrent or severe, as they could indicate complications from low urate levels. Early diagnosis can help manage potential issues like kidney stone formation.
Renal hypouricemia is typically diagnosed through blood tests showing persistently low levels of urate and urine tests confirming excessive urate excretion. Genetic testing for SLC22A12 mutations can confirm the diagnosis. Management often involves staying well-hydrated to prevent kidney stone formation, avoiding excessive exercise that might trigger symptoms, and sometimes dietary modifications. There isn't a specific medication to raise urate levels, so treatment focuses on symptom management and complication prevention.
While some SLC22A12 variants are associated with gout (high urate), the mutations causing renal hypouricemia (low urate) generally do not increase your risk of gout. In fact, low urate levels typically protect against gout. However, if you have a variant that impairs urate excretion rather than reabsorption, it could contribute to higher urate levels and gout risk. Your doctor can help interpret your specific genetic findings and advise on prevention strategies, which often include diet, hydration, and lifestyle changes.
Yes, renal hypouricemia caused by SLC22A12 mutations is an inherited condition, typically following an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected. However, some forms can be autosomal dominant. If you are diagnosed, your family members, especially siblings and children, may be at risk of being carriers or developing the condition. Genetic counseling can help assess risks for family members and discuss testing options.
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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