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

UMOD gene

The UMOD gene provides instructions for making uromodulin, a protein essential for kidney function and the regulation of minerals in urine.

Normal Function

The UMOD gene provides instructions for making a protein called uromodulin, which is produced exclusively in the loop of Henle in the kidney. This area of the kidney is responsible for reabsorbing nutrients and minerals to prevent their loss in urine.

Uromodulin functions include:

  • Assisting in the transport of sodium and potassium to help control water levels in urine.
  • Maintaining and protecting the lining of the loop of Henle.
  • Potentially protecting the body against urinary tract infections and kidney stones.

Health Conditions Related to Genetic Changes

Autosomal dominant tubulointerstitial kidney disease-UMOD

Variants in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD), an inherited condition leading to progressive kidney disease.

The disease mechanism involves:

  • Structural changes: Gene variants alter the structure of uromodulin, preventing it from reaching its required location in the loop of Henle.
  • Transport interference: A lack of functional uromodulin disrupts the transport of sodium and potassium.
  • Cell damage: The buildup of abnormal uromodulin may trigger the self-destruction (apoptosis) of kidney cells, ultimately leading to kidney failure.

Frequently Asked Questions

Early symptoms of ADTKD-UMOD are often subtle and can include increased urination, especially at night, and mild elevations in uric acid levels, which can lead to gout. Symptoms typically become noticeable in adolescence or early adulthood, progressing to chronic kidney disease over time.
utosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD) is inherited in an autosomal dominant pattern. This means if you have one copy of the altered UMOD gene, there is a 50% chance with each pregnancy that your child will inherit the variant and develop the condition.
Management of ADTKD-UMOD focuses on slowing kidney disease progression and managing complications. This includes regular monitoring of kidney function (e.g., blood creatinine, eGFR), blood pressure control, and managing uric acid levels to prevent gout. Lifestyle modifications like a low-salt diet and adequate hydration may also be recommended. Genetic counseling is also important for affected families.
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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