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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.
Gene Name: | solute carrier family 26 (anion exchanger), member 4 |
Family/Subfamily: | Transporter , Sulfate transporter |
Synonyms: | SLC26A4, DFNB4, EVA, Pendrin, PDS, TDH2B |
Target Sequences: | NM_000441 NP_000432.1 O43511 |
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