SLC26A3
SLC26A3 is a gene that provides instructions for making a protein involved in transporting certain ions, particularly chloride and bicarbonate, across cell membranes. This protein plays a crucial role in maintaining the balance of fluids and electrolytes in various tissues, especially in the intestines and kidneys.
Mutations in the SLC26A3 gene can lead to health issues, such as congenital chloride diarrhea, a condition characterized by severe diarrhea and electrolyte imbalances. Understanding the function of this gene is important for diagnosing and treating related disorders.