SLC12A3 : solute carrier family 12 member 3

Description

The SLC12A3 gene,  encodes for the sodium-chloride cotransporter protein NKCC2. This protein is predominantly expressed in the thick ascending limb of the loop of Henle in the kidneys, where it plays a crucial role in reabsorbing sodium and chloride ions from the urine. This process is vital for maintaining electrolyte balance, blood pressure regulation, and overall kidney function. Mutations in SLC12A3 can lead to various kidney-related disorders.

Associated Diseases

• Bartter syndrome type 1 (BS1)
• Gitelman syndrome
• Hypertension
• Hypokalemia
• Metabolic alkalosis

Did you know?

NKCC2 is the target of loop diuretics, a class of medications used to treat high blood pressure and edema.