Also known as
DFNB4, EVA, PDS, TDH2B
SLC26A4 is a gene that codes for a protein called pendrin. Pendrin is involved in the transport of ions (such as chloride and bicarbonate) across the membrane of cells, particularly in the inner ear and the thyroid gland. Mutations in the SLC26A4 gene can lead to several inherited disorders, including Pendred syndrome, a condition that affects hearing and the thyroid gland, and nonsyndromic deafness, which affects hearing but not the thyroid gland. In addition, the SLC26A4 gene has been shown to be involved in the development of the auditory and vestibular systems during fetal development.
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