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KCNJ5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KCNJ5 gene

The KCNJ5 gene regulates aldosterone production in the adrenal glands, and mutations in this gene are linked to hypertension and adrenal tumors.

Normal Function

The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, transporting potassium ions into and out of cells. These channels are found in several tissues, most notably the adrenal glands located on top of the kidneys.

In the adrenal glands, the flow of ions through these channels creates an electrical charge that triggers biochemical processes regulating aldosterone production. Aldosterone is a hormone that helps control blood pressure by maintaining proper salt and fluid levels in the body.

Health Conditions Related to Genetic Changes

Aldosterone-producing adenoma

Somatic mutations in the KCNJ5 gene (acquired during a person's lifetime) cause about 40 percent of these noncancerous adrenal tumors. These mutations make the potassium channels less selective, allowing sodium to pass through. This influx of sodium activates a pathway that increases aldosterone production, leading to:

  • High blood pressure (hypertension).
  • Increased risk of heart attack and stroke.
  • Increased cell growth and division in the adrenal glands, promoting tumor formation.

Familial hyperaldosteronism

Inherited (germline) mutations in the KCNJ5 gene can cause familial hyperaldosteronism type III. Similar to the somatic mutations found in adenomas, these genetic changes result in the production of less-selective potassium channels, leading to excess aldosterone production and hypertension.

Genomic Location

The KCNJ5 gene is found on chromosome 11.

Frequently Asked Questions

Persistent high blood pressure that is difficult to control, especially if accompanied by low potassium levels, headaches, or muscle cramps, should raise suspicion. Imaging of the adrenal glands may reveal a small tumor. How is a KCNJ5 mutation detected in patients with hypertension?::A blood test measures plasma aldosterone concentration and plasma renin activity. If the aldosterone‑to‑renin ratio is elevated, a CT scan of the adrenal glands is performed. If a tumor is found, sequencing of the tumor tissue can confirm a KCNJ5 mutation. What treatment options are available for patients with a KCNJ5‑mutated adrenal adenoma?::Surgical removal (adrenalectomy) is the definitive treatment. If surgery is not feasible, mineralocorticoid receptor antagonists (e.g., spironolactone or eplerenone) can control blood pressure and potassium levels. Do people with familial hyperaldosteronism type III need lifelong monitoring, and what does it involve?::Yes. They should have regular blood pressure checks, serum potassium, and plasma aldosterone levels at least every 6–12 months. Imaging of the adrenal glands may be repeated if symptoms worsen or if new lesions appear. Can lifestyle changes reduce the impact of a KCNJ5 mutation on blood pressure?::Maintaining a low‑salt diet, regular aerobic exercise, limiting alcohol, and avoiding smoking can help lower blood pressure and reduce the risk of cardiovascular complications.
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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