Pendrin

Pendrin also known as solute carrier family 26, member 4 or SLC26A4, is a human gene.cite web | title = Entrez Gene: SLC26A4 solute carrier family 26, member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5172| accessdate = ]

Function

Pendrin is an ion exchanger found in the cortical collecting duct. [cite journal | author = Wall S | title = The renal physiology of pendrin (SLC26A4) and its role in hypertension | journal = Novartis Found Symp | volume = 273 | issue = | pages = 231–9; discussion 239–43, 261–4 | year = 2006 | pmid = 17120771]

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.

Clinical significance

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.cite web | title = Entrez Gene: SLC26A4 solute carrier family 26, member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5172| accessdate = ]

Another less well understood role of pendrin is in airway hyperreactivity and inflammation, as during asthma attacks and allergic reactions. Expression of pendrin in the lung increases in response to allergens and high concentrations of IL-13, [cite journal | author = Kuperman, D.A., et al | title = Dissecting asthma using focused transgenic modeling and functional genomics | journal = J. Allergy Clin. Immunology | volume = 116 | issue = | pages = 305-311 | year = 2005 | pmid = 16083784] [cite journal | author = Zhen, G., et al | title = IL-13 and epidermal growth factor receptor have critical but distinct roles in epithelial cell mucin production | journal = Am. J. Respir. Cell Mol. Bio. | volume = 36 | issue = | pages = 244-253 | year = 2007 | pmid = 16980555] and overexpression of pendrin results in airway inflammation, hyperreactivity, and increased mucus production. [cite journal | author = Nakao, I., et al | title = Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease | journal = J. Immunol. | volume = 180 | issue = | pages = 6262-6269 | year = 2008 | pmid = 18424749] These symptoms could result from pendrin's effects on ion concentration in the airway surface liquid, possibly causing the liquid to be less hydrated. [cite journal | author = Nakagami, Y., et al | title = The epithelial anion transporter pendrin is induced by allergy and rhinovirus infection, regulates surface airway liquid, and increases airway reactivity and inflammation in an asthma model | journal = J. Immunol. | volume = 181 | issue = 3 | pages = 2203-2210 | year = 2008 | pmid = 18641360]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Markovich D |title=Physiological roles and regulation of mammalian sulfate transporters. |journal=Physiol. Rev. |volume=81 |issue= 4 |pages= 1499-533 |year= 2001 |pmid= 11581495 |doi=
*cite journal | author=Baldwin CT, Weiss S, Farrer LA, "et al." |title=Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. |journal=Hum. Mol. Genet. |volume=4 |issue= 9 |pages= 1637-42 |year= 1996 |pmid= 8541853 |doi=
*cite journal | author=Coyle B, Coffey R, Armour JA, "et al." |title=Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. |journal=Nat. Genet. |volume=12 |issue= 4 |pages= 421-3 |year= 1996 |pmid= 8630497 |doi= 10.1038/ng0496-421
*cite journal | author=Sheffield VC, Kraiem Z, Beck JC, "et al." |title=Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. |journal=Nat. Genet. |volume=12 |issue= 4 |pages= 424-6 |year= 1996 |pmid= 8630498 |doi= 10.1038/ng0496-424
*cite journal | author=Gausden E, Armour JA, Coyle B, "et al." |title=Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. |journal=Clin. Endocrinol. (Oxf) |volume=44 |issue= 4 |pages= 441-6 |year= 1996 |pmid= 8706311 |doi=
*cite journal | author=Coucke P, Van Camp G, Demirhan O, "et al." |title=The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. |journal=Genomics |volume=40 |issue= 1 |pages= 48-54 |year= 1997 |pmid= 9070918 |doi= 10.1006/geno.1996.4541
*cite journal | author=Everett LA, Glaser B, Beck JC, "et al." |title=Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 411-22 |year= 1997 |pmid= 9398842 |doi= 10.1038/ng1297-411
*cite journal | author=Li XC, Everett LA, Lalwani AK, "et al." |title=A mutation in PDS causes non-syndromic recessive deafness. |journal=Nat. Genet. |volume=18 |issue= 3 |pages= 215-7 |year= 1998 |pmid= 9500541 |doi= 10.1038/ng0398-215
*cite journal | author=Van Hauwe P, Everett LA, Coucke P, "et al." |title=Two frequent missense mutations in Pendred syndrome. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1099-104 |year= 1999 |pmid= 9618166 |doi=
*cite journal | author=Coyle B, Reardon W, Herbrick JA, "et al." |title=Molecular analysis of the PDS gene in Pendred syndrome. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1105-12 |year= 1999 |pmid= 9618167 |doi=
*cite journal | author=Usami S, Abe S, Weston MD, "et al." |title=Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. |journal=Hum. Genet. |volume=104 |issue= 2 |pages= 188-92 |year= 1999 |pmid= 10190331 |doi=
*cite journal | author=Scott DA, Wang R, Kreman TM, "et al." |title=The Pendred syndrome gene encodes a chloride-iodide transport protein. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 440-3 |year= 1999 |pmid= 10192399 |doi= 10.1038/7783
*cite journal | author=Masmoudi S, Charfedine I, Hmani M, "et al." |title=Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. |journal=Am. J. Med. Genet. |volume=90 |issue= 1 |pages= 38-44 |year= 2000 |pmid= 10602116 |doi=
*cite journal | author=Reardon W, OMahoney CF, Trembath R, "et al." |title=Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. |journal=QJM : monthly journal of the Association of Physicians |volume=93 |issue= 2 |pages= 99-104 |year= 2000 |pmid= 10700480 |doi=
*cite journal | author=Bogazzi F, Raggi F, Ultimieri F, "et al." |title=A novel mutation in the pendrin gene associated with Pendred's syndrome. |journal=Clin. Endocrinol. (Oxf) |volume=52 |issue= 3 |pages= 279-85 |year= 2000 |pmid= 10718825 |doi=
*cite journal | author=Bidart JM, Mian C, Lazar V, "et al." |title=Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue= 5 |pages= 2028-33 |year= 2000 |pmid= 10843192 |doi=
*cite journal | author=Adato A, Raskin L, Petit C, Bonne-Tamir B |title=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. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 6 |pages= 437-42 |year= 2000 |pmid= 10878664 |doi= 10.1038/sj.ejhg.5200489
*cite journal | author=Lohi H, Kujala M, Kerkelä E, "et al." |title=Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. |journal=Genomics |volume=70 |issue= 1 |pages= 102-12 |year= 2001 |pmid= 11087667 |doi= 10.1006/geno.2000.6355
*cite journal | author=Royaux IE, Wall SM, Karniski LP, "et al." |title=Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 7 |pages= 4221-6 |year= 2001 |pmid= 11274445 |doi= 10.1073/pnas.071516798
*cite journal | author=Campbell C, Cucci RA, Prasad S, "et al." |title=Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. |journal=Hum. Mutat. |volume=17 |issue= 5 |pages= 403-11 |year= 2001 |pmid= 11317356 |doi= 10.1002/humu.1116

External links

* [http://oto.wustl.edu/thc/innerear/pendrin-text.htm Description at oto.wustl.edu]
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