BSND : barttin CLCNK type accessory subunit beta

Description of the BSND Gene

The Barttin gene (BSND), located on chromosome 1, holds the blueprint for creating a crucial protein known as barttin. This protein is primarily found in the kidneys, where it forms an essential partnership with two specific chloride channels: ClC-Ka and ClC-Kb.

Kidney Function and the BSND Gene

Barttin plays a pivotal role in the kidney‘s complex mechanism for reabsorbing salt (sodium chloride or NaCl) from urine into the bloodstream. The ClC-Ka and ClC-Kb channels, with the assistance of barttin, transport negatively charged chlorine atoms (chloride ions) out of kidney cells. This process is integral to maintaining the proper balance of fluids in the body and regulating blood pressure.

Beyond the Kidneys: Barttin and Hearing

Interestingly, barttin, ClC-Ka, and ClC-Kb are also present in the inner ear, where they contribute to normal hearing. Dysfunctional barttin can lead to hearing loss in certain individuals.

Associated Diseases

Mutations in the BSND gene have been linked to a rare condition known as Bartter syndrome type III. This disorder is characterized by impaired salt reabsorption in the kidneys, resulting in low blood pressure, muscle weakness, and dehydration.

Did you Know ?

Bartter syndrome type III affects approximately 1 in 100,000 individuals worldwide.