Pendrin is an ion exchanger found in the cortical collecting duct.Pendrin is found at the luminal membrane of follicular cells in the thyroid gland. It transports iodine from the cytoplasm to the follicle lumen. Its activity is necessary for production of thyroid hormone.Pendrin is also found in the cells of the inner ear, where its function is not well understood.
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. Pendred syndrome is also characterized by hypothyroidism. SLC26A4 is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters.
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