Meyahealth
HomeGeneticsGeneSLC12A3 gene
Back to Gene
SLC12A3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC12A3 gene

The SLC12A3 gene encodes the NCC protein, a sodium chloride co-transporter that is essential for kidney function and blood pressure regulation.

Normal Function

The SLC12A3 gene provides instructions for making a protein known as NCC. This protein is a sodium chloride co-transporter that moves sodium and chlorine ions across cell membranes.

The NCC protein is essential for normal kidney function. It is part of the mechanism by which kidneys reabsorb salt (sodium chloride) from urine back into the bloodstream. This salt retention helps the body regulate fluid levels and maintain blood pressure.

Health Conditions Related to Genetic Changes

Gitelman syndrome

More than 140 mutations in the SLC12A3 gene have been identified in people with Gitelman syndrome. These mutations often prevent the NCC protein from reaching the cell membrane or impair its ability to transport ions. Other mutations lead to the production of a nonfunctional, abnormally short protein. These defects impair the kidneys' ability to reabsorb salt, leading to salt wasting and an imbalance of potassium, magnesium, and calcium in the body.

Other disorders

Research suggests that normal variants (polymorphisms) in the SLC12A3 gene may contribute to differences in blood pressure among individuals. Certain rare polymorphisms appear to protect against high blood pressure (hypertension) by altering the kidneys' ability to reabsorb salt, though findings across studies have been inconsistent.

Other Names for This Gene

  • Na-Cl symporter
  • NaCl electroneutral thiazide-sensitive cotransporter
  • NCCT
  • S12A3_HUMAN
  • solute carrier family 12 (sodium/chloride transporter), member 3
  • solute carrier family 12 (sodium/chloride transporters), member 3
  • thiazide-sensitive Na-Cl cotransporter
  • thiazide-sensitive sodium-chloride cotransporter
  • TSC

Frequently Asked Questions

Management primarily involves lifelong electrolyte replacement, particularly potassium and magnesium supplements, to correct the imbalances caused by the kidneys' inability to reabsorb salt effectively. A diet rich in potassium and magnesium, and sometimes increased salt intake, may also be recommended under medical supervision.
Beyond Gitelman syndrome, common variations (polymorphisms) in the SLC12A3 gene can influence how well the kidneys reabsorb salt, which in turn affects fluid levels and blood pressure. Some specific variants have been studied for their potential protective effect against high blood pressure by slightly reducing salt reabsorption, though findings can vary between individuals and populations.
Patients with Gitelman syndrome often experience symptoms related to low potassium and magnesium levels, such as muscle weakness, fatigue, cramps, and sometimes tingling sensations. They may also have increased thirst and frequent urination due to salt wasting from the kidneys.
Yes, Gitelman syndrome is an inherited condition. It is typically passed down in an autosomal recessive pattern, meaning a child must inherit two copies of a mutated SLC12A3 gene (one from each parent) to develop the syndrome. Parents who each carry one mutated copy are usually unaffected but have a 25% chance with each pregnancy of having a child with the condition.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ