SLC12A6
Solute carrier family 12 member 6is aproteinthat in humans is encoded by theSLC12A6gene.[5][6][7]
This gene is a member of the K-Clcotransporter(KCC) family. K-Clcotransportersare 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, the most important ones being KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.[7]
See also
[edit]References
[edit]- ^abcGRCh38: Ensembl release 89: ENSG00000140199–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000027130–Ensembl,May 2017
- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E,Sutherland GR,Vadas MA, Gamble JR (May 1999)."Cloning, characterization, and chromosomal location of a novel human K+-Cl−cotransporter ".J Biol Chem.274(15): 10661–7.doi:10.1074/jbc.274.15.10661.PMID10187864.
- ^Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G (Jul 1999)."Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family".J Biol Chem.274(23): 16355–62.doi:10.1074/jbc.274.23.16355.PMID10347194.
- ^ab"Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6".
External links
[edit]Further reading
[edit]- 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.doi:10.1152/ajpcell.1999.277.6.C1210.PMID10600773.
- 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:10.1074/jbc.M107155200.PMID11551954.
- 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:10.1038/ng1002.PMID12368912.S2CID23820724.
- 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.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
- 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:10.1152/ajpcell.00289.2002.PMID12637262.
- 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:10.1152/ajprenal.00032.2003.PMID12657561.S2CID7129055.
- 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:10.1074/jbc.M406706200.PMID15262997.
- 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:10.1152/ajprenal.00464.2004.PMID16048901.S2CID43713884.
- 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:10.1212/01.wnl.0000204181.31175.8b.PMID16606917.S2CID280621.
- 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:10.1002/jcp.20859.PMID17133354.S2CID21615465.
- 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:10.1212/01.wnl.0000291779.35643.15.PMID17893295.S2CID22747004.
- Hsu YM, Chen YF, Chou CY, et al. (2007)."KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition"(PDF).Cancer Res.67(22): 11064–73.doi:10.1158/0008-5472.CAN-07-2443.PMID18006853.
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.