SLC26A4
SLC26A4 is a gene that provides instructions for making a protein involved in transporting 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 inner ear and thyroid gland.
Mutations in the SLC26A4 gene can lead to health issues, such as Pendred syndrome, which is characterized by hearing loss and thyroid problems. Another condition associated with this gene is enlarged vestibular aqueduct syndrome, which affects balance and hearing. Understanding SLC26A4 is important for diagnosing and managing these conditions.