Pendrin

Pendrin is a protein that functions as an anion exchanger in biological systems. Its primary role is the transport of iodide ions across cell membranes, particularly in the thyroid gland. This transport is crucial for the synthesis of thyroid hormones, thyroxine (T4) and triiodothyronine (T3). The pendrin protein is encoded by the SLC26A4 gene in humans.

Mutations in the SLC26A4 gene can lead to a condition known as Pendred syndrome. This syndrome is characterized by sensorineural hearing loss and, in some individuals, goiter, which is an enlargement of the thyroid gland. The hearing loss associated with Pendred syndrome is typically congenital and can range in severity. The thyroid dysfunction arises from impaired iodide uptake due to the malfunctioning pendrin transporter.

Pendrin is also found in other tissues besides the thyroid, including the inner ear, kidney, and skin. Its presence in the inner ear suggests a role in maintaining the ionic composition of the endolymph, the fluid within the inner ear, which is vital for proper hearing. Research into pendrin's precise functions in these other tissues is ongoing, but its involvement in anion transport appears to be a common theme. Understanding pendrin's molecular mechanisms is important for both basic biological research and the development of therapeutic strategies for conditions linked to its dysfunction.