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; they have similar genomic structures and this gene is located 3" of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. Mouse monoclonal antibody raised against a partial recombinant SLC26A4.
Pathway
Multifunctional anion exchangers, organism-specific biosystem; SLC-mediated transmembrane transport, organism-specific biosystem; Transmembrane transport of small molecules, organism-specific biosystem; Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem
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