Pendrin
| Pendrin | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl |
|
| ||||
| UniProt |
| |||||
| RefSeq (mRNA) |
|
| ||||
| RefSeq (protein) |
|
| ||||
| Location (UCSC) | n/a | n/a | ||||
| PubMed search | n/a | n/a | ||||
| View/Edit Human | |||
Pendrin is an
anion exchange protein that in humans is encoded by the SLC26A4 gene (solute carrier family 26, member 4).[1][2]
Pendrin was initially identified as a sodium-independent chloride-iodide exchangerBand 3 transport protein found in red blood cells. Pendrin is the protein which is mutated in Pendred syndrome, which is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter and a partial organification problem detectable by a positive perchlorate test.[6]
Pendrin is responsible for mediating the
plasma membrane in the chloride cells of freshwater fish
.
By
phylogenetic analysis, pendrin has been found to be a close relative of prestin
present on the hair cells or organ of corti in the inner ear. Prestin is primarily an electromechanical transducer but pendrin is an ion transporter.
Function
Pendrin is an ion exchanger found in many types of cells in the body. High levels of pendrin expression have been identified in the inner ear and thyroid. In the thyroid, pendrin mediates a component of the efflux of iodide across the apical membrane of the thyrocyte, which is critical for the formation of thyroid hormone.
Thyroid hormone synthesis
, with Pendrin seen at center between the follicular colloid and the follicular cell.Clinical significance
Mutations in this gene are associated with
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]
Another little-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,[14][15] and overexpression of pendrin results in airway inflammation, hyperreactivity, and increased mucus production.[16][17] These symptoms could result from pendrin's effects on ion concentration in the airway surface liquid, possibly causing the liquid to be less hydrated.[18]
References
- ^ a b "Entrez Gene: SLC26A4 solute carrier family 26, member 4".
- S2CID 39359838.
- S2CID 23717390.
- S2CID 18841371.
- PMID 11208611.
- ISBN 1-58829-202-9.
- PMID 22116361.
- PMID 3862136.
- PMID 21103348.
- PMID 17299139.
- PMID 17120771.
- PMID 11274445.
- PMID 18538122.
- PMID 16083784.
- PMID 16980555.
- PMID 17404297.
- PMID 18424749.
- PMID 18641360.
Further reading
- Markovich D (October 2001). "Physiological roles and regulation of mammalian sulfate transporters". Physiological Reviews. 81 (4): 1499–533. S2CID 30942862.
- Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B (September 1995). "Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population". Human Molecular Genetics. 4 (9): 1637–42. PMID 8541853.
- Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R (April 1996). "Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4". Nature Genetics. 12 (4): 421–3. S2CID 7166946.
- Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B (April 1996). "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification". Nature Genetics. 12 (4): 424–6. S2CID 25888014.
- Gausden E, Armour JA, Coyle B, Coffey R, Hochberg Z, Pembrey M, Britton KE, Grossman A, Reardon W, Trembath R (April 1996). "Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome". Clinical Endocrinology. 44 (4): 441–6. S2CID 21410631.
- Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ (February 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. PMID 9070918.
- Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER (March 1998). "A mutation in PDS causes non-syndromic recessive deafness". Nature Genetics. 18 (3): 215–7. S2CID 40830620.
- Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G (July 1998). "Two frequent missense mutations in Pendred syndrome". Human Molecular Genetics. 7 (7): 1099–104. PMID 9618166.
- Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC (July 1998). "Molecular analysis of the PDS gene in Pendred syndrome". Human Molecular Genetics. 7 (7): 1105–12. PMID 9618167.
- Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ (February 1999). "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations". Human Genetics. 104 (2): 188–92. S2CID 3116063.
- Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H (January 2000). "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation". American Journal of Medical Genetics. 90 (1): 38–44. PMID 10602116.
- Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD (February 2000). "Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene". QJM. 93 (2): 99–104. PMID 10700480.
- Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L (March 2000). "A novel mutation in the pendrin gene associated with Pendred's syndrome". Clinical Endocrinology. 52 (3): 279–85. S2CID 40121366.
- Bidart JM, Mian C, Lazar V, Russo D, Filetti S, Caillou B, Schlumberger M (May 2000). "Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues". The Journal of Clinical Endocrinology and Metabolism. 85 (5): 2028–33. PMID 10843192.
- Adato A, Raskin L, Petit C, Bonne-Tamir B (June 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". European Journal of Human Genetics. 8 (6): 437–42. PMID 10878664.
- Lohi H, Kujala M, Kerkelä E, Saarialho-Kere U, Kestilä M, Kere J (November 2000). "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. PMID 11087667.
- Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ (May 2001). "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations". Human Mutation. 17 (5): 403–11. S2CID 36643824.
External links
- GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
- Description at oto.wustl.edu
- SLC26A4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)