Pendrin; Na+-independent chloride/iodide transporter; solute carrier family 26 member 4 (SLC26A4, PDS)

Function

• Na+ independent transporter of chloride & iodide

Structure

• belongs to the SLC26A/sulP transporter (TC 2.A.53) family
• contains 1 STAS domain

Compartment

membrane (probable)

Expression

• high expression in adult thyroid
• lower expression in adult & fetal kidney & fetal brain
• not expressed in other tissues

Pathology

• defects in SLC26A4 are a cause of:
  • Pendred syndrome
  • non-syndromic autosomal recessive neurosensory deafness 4

Laboratory

• SLC26A4 gene mutation

More general terms

• transmembrane 11 protein
• solute carrier family 26 (SLC26, SLC26A)

Additional terms

• autosomal recessive neurosensory deafness 4 (vestibular aqueduct syndrome, DFNB4)
• enlarged vestibular aqueduct syndrome (EVA)
• Pendred syndrome (goiter-deafness syndrome)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5172
• OMIM: https://mirror.omim.org/entry/274600
• OMIM: https://mirror.omim.org/entry/600791
• OMIM: https://mirror.omim.org/entry/605646
• UniProt: http://www.uniprot.org/uniprot/O43511.html