SLC26A1

Description

The SLC26A1 gene, also known as DRA (Down-regulated in Adenocarcinoma), plays a crucial role in maintaining electrolyte balance by transporting chloride and sulfate ions across cell membranes. This gene is expressed primarily in the intestines, kidneys, and inner ear, where it contributes to vital processes like fluid absorption, acid-base regulation, and hearing. SLC26A1 functions as a membrane protein, facilitating the exchange of chloride and bicarbonate ions, and also transporting sulfate ions. This intricate mechanism is essential for proper organ function and overall health.

Associated Diseases

• Congenital Chloride Diarrhea (CDD)
• Pendred Syndrome
• Hearing Loss (nonsyndromic)
• Hypothyroidism
• Goiter
• Kidney Stones

Did you know?

Mutations in the SLC26A1 gene are linked to various diseases, highlighting its critical role in maintaining physiological balance.