SLC26A4
MIM.605646 7q31
solute carrier family 26 member 4, pendrin, PDS gene
The SLC26A4 gene encodes an transmembrane anion transporter known as pendrin. Pendrin is an apical porter of iodide in the thyroid.
SLC26A4 germline mutations in
- Pendred syndrome (PDS)(MIM.274600)
- autosomal recessive neurosensory deafness locus 4 (DFNB4 locus at 7q31) (MIM.600791)
- enlarged vestibular aqueduct syndrome (EVA) (MIM.603545)
SLC26A4 is a susceptibility gene to autoimmune thyroid diseases (AITDs)
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