SLC12A1

gene

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Last updated

July 20, 2026

Quick Summary

The gene SLC12A1 is associated with a rare disorder called neonatal Bartter syndrome, a type of Bartter syndrome. This condition primarily affects the kidneys and is characterized by the excessive excretion of potassium in the urine. Neonatal Bartter syndrome arises from genetic defects that disrupt the transport of potassium and chloride in the renal tubules. This disruption leads to an imbalance of electrolytes and can result in health issues such as short stature and intellectual disability. The SLC12A1 gene plays a crucial role in maintaining the body's balance of sodium and potassium.1

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Bartter syndrome
Types of Bartter syndrome
…mutation of the gene designated SLC12A1 (solute carrier family 12, member 1), whereas type 2 is caused by mutation of the gene KCNJ1 (potassium inwardly rectifying channel, subfamily J, member 1). These genes play fundamental roles in maintaining physiological homeostasis of sodium and potassium concentrations.
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…mutation of the gene designated SLC12A1 (solute carrier family 12, member 1), whereas type 2 is caused by mutation of the gene KCNJ1 (potassium inwardly rectifying channel, subfamily J, member 1). These genes play fundamental roles in maintaining physiological homeostasis of sodium and potassium concentrations.
Read More