SLC26A4
MIM.605646 7q31
The SLC26A4 gene encodes an transmembrane anion transporter known as pendrin. Pendrin is an apical porter of iodide in the thyroid.
Pathology
SLC26A4 germline mutations in
- Pendred syndrome (PDS)(MIM.274600) (#17503324#)
- autosomal recessive neurosensory deafness locus 4 (DFNB4 locus at 7q31) (MIM.600791) (#17503324#)
- enlarged vestibular aqueduct syndrome (EVA) (MIM.603545)
SLC26A4 is a susceptibility gene to autoimmune thyroid diseases (AITDs)
References
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4). Am J Hum Genet. 2007 Jun;80(6):1055-63. PMID: #17503324#