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SLC12A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC12A1 gene

The SLC12A1 gene is responsible for producing the NKCC2 protein, which is vital for kidney function and the regulation of blood pressure.

Normal Function

The SLC12A1 gene provides instructions for making a protein known as NKCC2. This protein acts as a Na+/K+/2Cl- cotransporter, moving charged atoms (ions) of sodium, potassium, and chlorine into cells.

The NKCC2 protein is essential for normal kidney function. It works with other transport proteins to regulate the movement of ions into and out of kidney cells, providing the mechanism by which kidneys reabsorb salt (sodium chloride) from urine back into the bloodstream. This process of salt retention affects the body's fluid levels and helps maintain blood pressure.

Health Conditions Related to Genetic Changes

Bartter syndrome

More than 40 mutations in the SLC12A1 gene have been identified in people with Bartter syndrome type I, a severe disorder that causes life-threatening health problems before or soon after birth. These mutations prevent the NKCC2 protein from transporting ions into kidney cells, leading to excessive salt loss through urine (salt wasting). This disrupts the body's balance of sodium, potassium, and other ions.

Other disorders

Studies suggest that normal variants (polymorphisms) in the SLC12A1 gene may influence variations in blood pressure. Certain rare polymorphisms appear to protect against high blood pressure (hypertension), while other genetic variants may increase the risk of developing the condition by altering the kidneys' ability to reabsorb salt.

Other Names for This Gene

  • BSC1
  • bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
  • kidney-specific Na-K-Cl symporter
  • Na-K-2Cl cotransporter
  • NKCC2
  • S12A1_HUMAN
  • solute carrier family 12 (sodium/potassium/chloride transporter), member 1
  • solute carrier family 12 (sodium/potassium/chloride transporters), member 1

Frequently Asked Questions

Newborns with Bartter syndrome type I often present with severe dehydration, failure to thrive, and poor weight gain shortly after birth. Because the kidneys cannot retain salt, these infants lose excessive amounts of sodium and potassium in their urine, leading to electrolyte imbalances. Other signs may include lethargy, weak cry, and signs of low blood pressure. Early detection is critical to prevent life-threatening complications from dehydration and electrolyte disturbances.
Bartter syndrome is a chronic condition that requires lifelong management. Treatment typically involves high-dose potassium and magnesium supplements, along with non-steroidal anti-inflammatory drugs (NSAIDs) to reduce prostaglandin levels, which can help control urine output. While there is no cure, many individuals with Bartter syndrome can lead relatively normal lives with consistent medical care, although they remain at risk for kidney stones and hearing loss over time.
The SLC12A1 gene produces the NKCC2 protein, which helps the kidneys reabsorb salt from urine back into the blood. When this protein is defective, the kidneys waste salt, leading to low blood volume and potentially low blood pressure in severe cases like Bartter syndrome. Conversely, certain common genetic variants (polymorphisms) in this gene can slightly alter how efficiently the kidneys handle salt, which may influence an individual's baseline blood pressure and their susceptibility to developing hypertension later in life.
Routine genetic testing for SLC12A1 variants is not currently recommended for the general population with hypertension. While specific rare polymorphisms may influence blood pressure regulation, high blood pressure is usually multifactorial, involving diet, lifestyle, and other genetic factors. Genetic testing is typically reserved for patients with specific clinical features suggestive of monogenic kidney disorders, such as Bartter syndrome, rather than for standard hypertension management.
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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