Biology:SLC26A3
 Generic protein structure example |
Solute carrier family 26, member 3, also known as CLD (chloride anion exchanger), or DRA (downregulated-in-adenoma) is a protein that in humans is encoded by the SLC26A3 gene.[1]
Function
The downregulated-in-adenoma (DRA) is a membrane protein in intestinal cells. It is an anion exchanger and a member of the sulfate anion transporter (SAT) family. It mediates chloride and bicarbonate exchange and additionally transports sulfate and other anions at the apical membrane, part of the plasma membrane of enterocytes. It is different from the anion exchanger that present in erythrocytes, renal tubule, and several other tissues.[2]
The protein encoded by this gene is a transmembrane glycoprotein that functions as a sulfate transporter. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells, and is instrumental in chloride reuptake, aiding in the creation of an osmotic gradient for resorption of fluid from the lumen of the intestine.[3]
Clinical significance
Mutations in this gene have been associated with congenital chloride diarrhoea,[1] a treatable disease.
The congenital absence of this membrane protein results in an autosomal recessive disorder called congenital chloridorrhea or congenital chloride diarrhea (CLD).[4]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: SLC26A3 solute carrier family 26, member 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1811.
- ↑ "The functional and physical relationship between the DRA bicarbonate transporter and carbonic anhydrase II". American Journal of Physiology. Cell Physiology 283 (5): C1522-9. November 2002. doi:10.1152/ajpcell.00115.2002. PMID 12372813.
- ↑ "LPA stimulates intestinal DRA gene transcription via LPA2 receptor, PI3K/AKT, and c-Fos-dependent pathway". American Journal of Physiology. Gastrointestinal and Liver Physiology 302 (6): G618-27. March 2012. doi:10.1152/ajpgi.00172.2011. PMID 22159277.
- ↑ "Molecular cloning and promoter analysis of downregulated in adenoma (DRA)". American Journal of Physiology. Gastrointestinal and Liver Physiology 293 (5): G923-34. November 2007. doi:10.1152/ajpgi.00029.2007. PMID 17761837.
Further reading
- "Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor". Trends in Biochemical Sciences 19 (1): 19. January 1994. doi:10.1016/0968-0004(94)90168-6. PMID 8140616.
- "Physiological roles and regulation of mammalian sulfate transporters". Physiological Reviews 81 (4): 1499–533. October 2001. PMID 11581495.
- "SLC26A3 mutations in congenital chloride diarrhea". Human Mutation 20 (6): 425–38. December 2002. doi:10.1002/humu.10139. PMID 12442266.
- "Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas". Proceedings of the National Academy of Sciences of the United States of America 90 (9): 4166–70. May 1993. doi:10.1073/pnas.90.9.4166. PMID 7683425.
- "Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization". Genomics 20 (1): 146–7. March 1994. doi:10.1006/geno.1994.1148. PMID 8020951.
- "Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea". Nature Genetics 14 (3): 316–9. November 1996. doi:10.1038/ng1196-316. PMID 8896562.
- "Human DRA functions as a sulfate transporter in Sf9 insect cells". Protein Expression and Purification 12 (1): 67–74. February 1998. doi:10.1006/prep.1997.0809. PMID 9473459.
- "Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene". Human Mutation 11 (4): 321–7. 1998. doi:10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A. PMID 9554749.
- "Down-regulation of the down-regulated in adenoma (DRA) gene correlates with colon tumor progression". Clinical Cancer Research 4 (8): 1857–63. August 1998. PMID 9717812.
- "Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait". American Journal of Human Genetics 63 (3): 760–8. September 1998. doi:10.1086/301998. PMID 9718329.
- "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. November 2000. doi:10.1006/geno.2000.6355. PMID 11087667.
- "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea". Human Mutation 18 (3): 233–42. September 2001. doi:10.1002/humu.1179. PMID 11524734.
- "Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9". The Journal of Biological Chemistry 277 (16): 14246–54. April 2002. doi:10.1074/jbc.M111802200. PMID 11834742.
- "The down regulated in adenoma (dra) gene product binds to the second PDZ domain of the NHE3 kinase A regulatory protein (E3KARP), potentially linking intestinal Cl-/HCO3- exchange to Na+/H+ exchange". Biochemistry 41 (41): 12336–42. October 2002. doi:10.1021/bi0259103. PMID 12369822.
- "Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes". The Journal of Physiology 549 (Pt 1): 3–19. May 2003. doi:10.1113/jphysiol.2003.039818. PMID 12651923.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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