SLC12A6
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Solute carrier family 12 (potassium/chloride transporters), member 6, also known as SLC12A6, is a human gene.[1]
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.[1]
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[edit] References
[edit] Further reading
- Hiki K, D'Andrea RJ, Furze J, et al. (1999). "Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter.". J. Biol. Chem. 274 (15): 10661-7. PMID 10187864.
- Mount DB, Mercado A, Song L, et al. (1999). "Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family.". J. Biol. Chem. 274 (23): 16355-62. PMID 10347194.
- Race JE, Makhlouf FN, Logue PJ, et al. (2000). "Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter.". Am. J. Physiol. 277 (6 Pt 1): C1210-9. PMID 10600773.
- Casula S, Shmukler BE, Wilhelm S, et al. (2001). "A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity.". J. Biol. Chem. 276 (45): 41870-8. doi:. PMID 11551954.
- Howard HC, Mount DB, Rochefort D, et al. (2002). "The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.". Nat. Genet. 32 (3): 384-92. doi:. PMID 12368912.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:. PMID 12477932.
- Bräuer M, Frei E, Claes L, et al. (2003). "Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblasts.". Am. J. Physiol., Cell Physiol. 285 (1): C22-30. doi:. PMID 12637262.
- Bergeron MJ, Gagnon E, Wallendorff B, et al. (2003). "Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters.". Am. J. Physiol. Renal Physiol. 285 (1): F68-78. doi:. PMID 12657561.
- Shen MR, Lin AC, Hsu YM, et al. (2004). "Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells.". J. Biol. Chem. 279 (38): 40017-25. doi:. PMID 15262997.
- Mercado A, Vázquez N, Song L, et al. (2005). "NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter.". Am. J. Physiol. Renal Physiol. 289 (6): F1246-61. doi:. PMID 16048901.
- Uyanik G, Elcioglu N, Penzien J, et al. (2006). "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.". Neurology 66 (7): 1044-8. doi:. PMID 16606917.
- Hsu YM, Chou CY, Chen HH, et al. (2007). "IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness.". J. Cell. Physiol. 210 (3): 626-36. doi:. PMID 17133354.
- Salin-Cantegrel A, Rivière JB, Dupré N, et al. (2007). "Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.". Neurology 69 (13): 1350-5. doi:. PMID 17893295.
- Hsu YM, Chen YF, Chou CY, et al. (2007). "KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.". Cancer Res. 67 (22): 11064-73. doi:. PMID 18006853.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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