Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene.
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Protein Aliases: Pendrin; Sodium-independent chloride/iodide transporter; solute carrier family 26 (anion exchanger), member 4; Solute carrier family 26 member 4; truncated solute carrier family 26
Gene Aliases: DFNB4; EVA; PDS; SLC26A4; TDH2B
UniProt ID: (Human) O43511
Entrez Gene ID: (Human) 5172