KCNJ1

KCNJ1 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 1) is a protein that in humans is encoded by the KCNJ1 gene. It is also known as ROMK (Renal Outer Medullary Potassium channel). This protein is a member of the inward-rectifier type potassium channel family and is predominantly expressed in the kidney. The function of this channel has been implicated in maintaining salt and water balance.

Function

The KCNJ1 gene provides instructions for making a protein that forms a channel, which transports positively charged atoms (ions) of potassium into and out of cells. This particular ion channel is found in the kidneys, where it helps to regulate the amount of potassium that is reabsorbed into the body and the amount that is excreted in urine. By controlling the flow of potassium ions, the KCNJ1 protein helps maintain the proper balance of these ions in the body.

Clinical significance

Mutations in the KCNJ1 gene can cause a rare kidney disorder called Bartter syndrome, type 2. This condition is characterized by low levels of potassium in the blood (hypokalemia), increased levels of a hormone called aldosterone (hyperaldosteronism), and excessive excretion of potassium in the urine (hyperkalemia). These imbalances can lead to a variety of health problems, including growth delay, muscle weakness, and kidney failure.

See also

• Inward-rectifier potassium ion channels
• Bartter syndrome

External links

• KCNJ1 at the National Center for Biotechnology Information

KCNJ1 Resources
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