Pendrin

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Solute carrier family 26, member 4
Identifiers
Symbols SLC26A4; DFNB4; PDS
External IDs OMIM: 605646 MGI: 1346029 HomoloGene: 20132
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5172 23985
Ensembl ENSG00000091137 ENSMUSG00000020651
Uniprot O43511 Q9R155
Refseq NM_000441 (mRNA)
NP_000432 (protein)		 NM_011867 (mRNA)
NP_035997 (protein)
Location Chr 7: 107.09 - 107.15 Mb Chr 12: 32.1 - 32.15 Mb
Pubmed search [1] [2]


Pendrin also known as solute carrier family 26, member 4 or SLC26A4, is a human gene.[1]

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.[1]

Pendrin is an ion exchanger found in the cortical collecting duct.[2]

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.

References

  1. ^ a b "Entrez Gene: SLC26A4 solute carrier family 26, member 4".
  2. ^ Wall S (2006). "The renal physiology of pendrin (SLC26A4) and its role in hypertension.". Novartis Found Symp 273: 231–9; discussion 239–43, 261–4. PMID 17120771. 

Further reading

  • Markovich D (2001). "Physiological roles and regulation of mammalian sulfate transporters.". Physiol. Rev. 81 (4): 1499-533. PMID 11581495. 
  • Baldwin CT, Weiss S, Farrer LA, et al. (1996). "Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.". Hum. Mol. Genet. 4 (9): 1637-42. PMID 8541853. 
  • Coyle B, Coffey R, Armour JA, et al. (1996). "Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.". Nat. Genet. 12 (4): 421-3. doi:10.1038/ng0496-421. PMID 8630497. 
  • Sheffield VC, Kraiem Z, Beck JC, et al. (1996). "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.". Nat. Genet. 12 (4): 424-6. doi:10.1038/ng0496-424. PMID 8630498. 
  • Gausden E, Armour JA, Coyle B, et al. (1996). "Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.". Clin. Endocrinol. (Oxf) 44 (4): 441-6. PMID 8706311. 
  • Coucke P, Van Camp G, Demirhan O, et al. (1997). "The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.". Genomics 40 (1): 48-54. doi:10.1006/geno.1996.4541. PMID 9070918. 
  • Everett LA, Glaser B, Beck JC, et al. (1997). "Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).". Nat. Genet. 17 (4): 411-22. doi:10.1038/ng1297-411. PMID 9398842. 
  • Li XC, Everett LA, Lalwani AK, et al. (1998). "A mutation in PDS causes non-syndromic recessive deafness.". Nat. Genet. 18 (3): 215-7. doi:10.1038/ng0398-215. PMID 9500541. 
  • Van Hauwe P, Everett LA, Coucke P, et al. (1999). "Two frequent missense mutations in Pendred syndrome.". Hum. Mol. Genet. 7 (7): 1099-104. PMID 9618166. 
  • Coyle B, Reardon W, Herbrick JA, et al. (1999). "Molecular analysis of the PDS gene in Pendred syndrome.". Hum. Mol. Genet. 7 (7): 1105-12. PMID 9618167. 
  • Usami S, Abe S, Weston MD, et al. (1999). "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.". Hum. Genet. 104 (2): 188-92. PMID 10190331. 
  • Scott DA, Wang R, Kreman TM, et al. (1999). "The Pendred syndrome gene encodes a chloride-iodide transport protein.". Nat. Genet. 21 (4): 440-3. doi:10.1038/7783. PMID 10192399. 
  • Masmoudi S, Charfedine I, Hmani M, et al. (2000). "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.". Am. J. Med. Genet. 90 (1): 38-44. PMID 10602116. 
  • Reardon W, OMahoney CF, Trembath R, et al. (2000). "Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.". QJM : monthly journal of the Association of Physicians 93 (2): 99-104. PMID 10700480. 
  • Bogazzi F, Raggi F, Ultimieri F, et al. (2000). "A novel mutation in the pendrin gene associated with Pendred's syndrome.". Clin. Endocrinol. (Oxf) 52 (3): 279-85. PMID 10718825. 
  • Bidart JM, Mian C, Lazar V, et al. (2000). "Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.". J. Clin. Endocrinol. Metab. 85 (5): 2028-33. PMID 10843192. 
  • Adato A, Raskin L, Petit C, Bonne-Tamir B (2000). "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 (6): 437-42. doi:10.1038/sj.ejhg.5200489. PMID 10878664. 
  • Lohi H, Kujala M, Kerkelä E, et al. (2001). "Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.". Genomics 70 (1): 102-12. doi:10.1006/geno.2000.6355. PMID 11087667. 
  • Royaux IE, Wall SM, Karniski LP, et al. (2001). "Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.". Proc. Natl. Acad. Sci. U.S.A. 98 (7): 4221-6. doi:10.1073/pnas.071516798. PMID 11274445. 
  • Campbell C, Cucci RA, Prasad S, et al. (2001). "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.". Hum. Mutat. 17 (5): 403-11. doi:10.1002/humu.1116. PMID 11317356. 

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