CLCNKA : chloride voltage-gated channel Ka

Unraveling the Role of CLCNKA: A Gene Essential for Electrical Signaling and Fluid Balance

Description

Nestled within the human genome lies the CLCNKA gene, a crucial member of the CLC gene family. This gene orchestrates the production of chloride channels, gatekeepers of electrical impulses and fluid balance within our cells. Chloride ions, bearing a negative charge, traverse these channels, enabling the generation and transmission of vital electrical signals.

Associated Diseases

Mutations within the CLCNKA gene can disrupt the normal function of chloride channels, leading to a range of neurological and kidney disorders. These disorders include:

• Bartter syndrome type III: A rare disorder affecting the kidneys, characterized by excessive salt loss in the urine, leading to dehydration, low blood pressure, and impaired growth.
• Dent‘s disease: Another rare kidney disorder, marked by excessive calcium loss in the urine, causing kidney stones, bone and muscle weakness, and mental impairment.
• Episodic ataxia type 2: A neurological disorder characterized by recurrent episodes of muscle weakness, speech difficulties, and impaired balance.

Did you Know ?

Research suggests that mutations in the CLCNKA gene are responsible for approximately 10% of cases of Bartter syndrome type III, highlighting its significant role in the development of this disorder.