CLCNKB

CLCNKB is a gene in humans that encodes a protein known as chloride voltage-gated channel Kb. This protein is a member of the ClC family of chloride channels and ion transporters. The CLCNKB gene is located on the long (q) arm of chromosome 1 at position 31.

Function

The CLCNKB gene provides instructions for making a protein that is primarily found in the kidneys. This protein, called ClC-Kb, forms a channel that controls the flow of chloride ions into and out of cells. Chloride channels play a key role in the body's control of fluid and acid levels. They are also involved in the reabsorption of sodium in the kidneys, a process that is important for maintaining the body's salt and water balance.

Clinical significance

Mutations in the CLCNKB gene can cause a rare disorder known as Bartter syndrome. This condition is characterized by low levels of potassium in the blood (hypokalemia), increased levels of calcium in the urine (hypercalciuria), and excessive thirst (polydipsia). Bartter syndrome is typically diagnosed in infancy or early childhood and can lead to growth retardation and developmental delay if not treated promptly.

See also

• Chloride channel
• Bartter syndrome
• Hypokalemia
• Hypercalciuria
• Polydipsia

External links

• CLCNKB at National Center for Biotechnology Information
• CLCNKB at Genetics Home Reference