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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: a) Pendred syndrome b) non-syndromic autosomal recessive neurosensory deafness 4 Laboratory: - SLC26A4 gene mutation

Related

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

General

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

Properties

SIZE: entity length = 780 aa MW = 86 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-109} transmembrane domain {110-130} exoplasmic loop {131-135} transmembrane domain {136-156} cytoplasmic loop {157-191} transmembrane domain {192-212} exoplasmic loop {213-263} transmembrane domain {264-284} cytoplasmic loop {285-295} transmembrane domain {296-316} exoplasmic loop {317-344} transmembrane domain {345-365} cytoplasmic loop {366-384} transmembrane domain {385-405} exoplasmic loop {406-421} transmembrane domain {422-442} cytoplasmic loop {443-448} transmembrane domain {449-469} exoplasmic loop {470-486} transmembrane domain {487-507} cytoplasmic loop {508-652} transmembrane domain {653-673} exoplasmic domain {674-780}

Database Correlations

OMIM correlations MORBIDMAP 605646 UniProt O43511 PFAM correlations Kegg hsa:5172

References

  1. UniProt :accession O43511
  2. Hereditary hearing loss homepage; Note: gene page http://webhost.ua.ac.be/hhh/
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A4
  4. SHMPD; The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=S&genename=SLC26A4+%40+PDS
  5. Wikipedia; Pendrin entry http://en.wikipedia.org/wiki/Pendrin