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CLCNKA gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CLCNKA gene

The CLCNKA gene provides instructions for a chloride channel that helps the kidneys reabsorb salt and plays a role in maintaining normal hearing in the inner ear.

Normal Function

The CLCNKA gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key role in a cell's ability to generate and transmit electrical signals.

The CLCNKA gene provides instructions for making a chloride channel called ClC-Ka. These channels are found predominantly in the kidneys. ClC-Ka is one of several proteins that work together to regulate the movement of ions into and out of kidney cells. The transport of chloride ions by ClC-Ka channels is part of the mechanism by which the kidneys reabsorb salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.

ClC-Ka channels are also located in the inner ear, where they play a role in normal hearing.

Health Conditions Related to Genetic Changes

Bartter syndrome

Several people with Bartter syndrome have had mutations in both the CLCNKA gene and a closely related gene called CLCNKB. The CLCNKB gene provides instructions for making a very similar chloride channel, ClC-Kb, that is also found in the kidneys and inner ear. A combination of CLCNKA and CLCNKB gene mutations causes a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as antenatal Bartter syndrome with sensorineural deafness because affected individuals have hearing loss caused by abnormalities in the inner ear.

Mutations in the CLCNKA and CLCNKB genes prevent the ClC-Ka and ClC-Kb channels from transporting chloride ions in the kidneys. As a result, the kidneys cannot reabsorb salt normally and excess salt is lost through the urine (salt wasting). The abnormal salt loss disrupts the normal balance of ions in the body, leading to features including failure to thrive, dehydration, constipation, and increased urine production (polyuria).

Other disorders

Studies suggest that several normal variants (polymorphisms) in the CLCNKA gene may be associated with salt-sensitive hypertension, a form of high blood pressure related to increased levels of salt in the blood. However, this association has not been confirmed.

Other Names for This Gene

  • chloride channel Ka
  • chloride channel protein ClC-Ka
  • chloride channel, kidney, A
  • chloride channel, voltage-sensitive Ka
  • ClC-K1
  • CLCK1
  • CLCKA_HUMAN
  • hClC-Ka

Frequently Asked Questions

Key red‑flags include polyhydramnios (excess amniotic fluid) during pregnancy, premature birth, severe dehydration soon after delivery, persistent low potassium (hypokalemia), metabolic alkalosis, and failure to thrive. Unexplained hearing loss detected by newborn hearing screening strongly points toward the combined CLCNKA/CLCNKB form.
ClC‑Ka helps reabsorb sodium chloride in the distal nephron. When the channel is less functional, the kidney wastes salt, leading to reduced extracellular fluid volume and lower blood pressure. Over time, the body may compensate with activation of the renin‑angiotensin‑aldosterone system, which can cause fluctuations in blood pressure and electrolyte balance.
Most carriers (heterozygotes) are asymptomatic because one normal copy usually provides enough functional ClC‑Ka channel activity. However, some carriers may have mild electrolyte shifts, such as slightly lower blood pressure or a tendency toward salt‑sensitive hypertension, especially if other kidney‑related genes are also altered.
Management focuses on replacing lost electrolytes and sodium: oral potassium‑sparing diuretics (e.g., spironolactone), indomethacin or other NSAIDs to reduce prostaglandin‑mediated renal loss, and high‑salt diets or sodium supplements. In severe cases, intravenous fluid and electrolyte replacement may be needed during crises. Regular monitoring of potassium, chloride, bicarbonate, and renal function is essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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