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The SLC26A4 gene encodes pendrin, a membrane protein that functions as an anion exchanger. It mediates the electroneutral exchange of chloride (Cl⁻), iodide (I⁻), bicarbonate (HCO₃⁻), hydroxide (OH⁻), and formate across cell membranes. Pendrin is primarily expressed in the inner ear, thyroid gland, kidney, and also found in the liver and airway epithelium. Mutations in SLC26A4 are associated with Pendred Syndrome, DFNB4 nonsyndromic hearing loss and congenital hypothyroidism.
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