KCNJ1
KCNJ1 is a gene that provides instructions for making a protein known as an inwardly rectifying potassium channel. This protein plays a crucial role in maintaining the balance of potassium ions in cells, particularly in the kidneys. Proper function of KCNJ1 is essential for regulating fluid balance and blood pressure in the body.
Mutations in the KCNJ1 gene can lead to a condition called Bartter syndrome, which affects kidney function and can result in electrolyte imbalances. Individuals with this syndrome may experience symptoms such as dehydration, muscle weakness, and growth issues. Understanding KCNJ1 is important for diagnosing and managing related health conditions.