Solute Carrier Family 26, Member 4 (SLC26A4)

Pendrin; DFNB4; PDS; Sodium-Independent Chloride/Iodide Transporter

SPN	S327
HGNC	8818
MGI	1346029
PubMed	18285825
RGD	3293
UniProt	O43511
Wiki	Pendrin

Pendrin is an ion exchanger found in the cortical collecting duct.Pendrin is found at the luminal membrane of follicular cells in the thyroid gland. It transports iodine from the cytoplasm to the follicle lumen. Its activity is necessary for production of thyroid hormone.Pendrin is also found in the cells of the inner ear, where its function is not well understood.

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. Pendred syndrome is also characterized by hypothyroidism. SLC26A4 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.

Reference

"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)."
Nat. Genet. 17:411-422(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"The Pendred syndrome gene encodes a chloride-iodide transport protein."
Nat. Genet. 21:440-443(1999) [PubMed] [Europe PMC] [Abstract]

"Two frequent missense mutations in Pendred syndrome."
Hum. Mol. Genet. 7:1099-1104(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)."
Hum. Mol. Genet. 7:1105-1112(1998) [PubMed] [Europe PMC] [Abstract]

"A mutation in PDS causes non-syndromic recessive deafness."
Nat. Genet. 18:215-217(1998) [PubMed] [Europe PMC] [Abstract]

"Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations."
Hum. Genet. 104:188-192(1999) [PubMed] [Europe PMC] [Abstract]

"Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation."
Am. J. Med. Genet. 90:38-44(2000) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the pendrin gene associated with Pendred's syndrome."
Clin. Endocrinol. (Oxf.) 52:279-285(2000) [PubMed] [Europe PMC] [Abstract]

"Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus."
Eur. J. Hum. Genet. 8:437-442(2000) [PubMed] [Europe PMC] [Abstract]

"Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene."
QJM 93:99-104(2000) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular analysis of three Mexican families with Pendred's syndrome."
Eur. J. Endocrinol. 144:585-593(2001) [PubMed] [Europe PMC] [Abstract]

"Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations."
Hum. Mutat. 17:403-411(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment."
Hum. Mutat. 18:548-548(2001) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mutat. 20:77-78(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome."
J. Clin. Endocrinol. Metab. 87:1778-1784(2002) [PubMed] [Europe PMC] [Abstract]

"Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies."
Pediatr. Res. 51:479-484(2002) [PubMed] [Europe PMC] [Abstract]

"Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey."
Clin. Genet. 64:371-374(2003) [PubMed] [Europe PMC] [Abstract]

"Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese."
Eur. J. Hum. Genet. 11:916-922(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation."
J. Clin. Endocrinol. Metab. 88:2916-2921(2003) [PubMed] [Europe PMC] [Abstract]

"Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness."
J. Med. Genet. 40:242-248(2003) [PubMed] [Europe PMC] [Abstract]

"Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations."
Am. J. Med. Genet. A 124:1-9(2004) [PubMed] [Europe PMC] [Abstract]

"Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity."
Clin. Genet. 66:333-340(2004) [PubMed] [Europe PMC] [Abstract]

"Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene."
J. Clin. Endocrinol. Metab. 89:5347-5351(2004) [PubMed] [Europe PMC] [Abstract]

"SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities."
J. Med. Genet. 42:159-165(2005) [PubMed] [Europe PMC] [Abstract]

"Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes."
J. Clin. Endocrinol. Metab. 91:2678-2681(2006) [PubMed] [Europe PMC] [Abstract]

"Temporal bone imaging in GJB2 deafness."
Laryngoscope 116:2178-2186(2006) [PubMed] [Europe PMC] [Abstract]

"Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?"
Hum. Mutat. 30:599-608(2009) [PubMed] [Europe PMC] [Abstract]

"Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA)."
Ann. Hum. Genet. 74:299-307(2010) [PubMed] [Europe PMC] [Abstract]

"Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive."
Hum. Genet. 127:116-116(2010) [PubMed] [Europe PMC] [Abstract]