SLC12A6 explained

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.^{[1] [2] [3]}

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, the most important ones being KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.^[3]

See also

• Solute carrier family

External links

• GeneReview/NIH/UW entry on Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Further reading

• Race JE, Makhlouf FN, Logue PJ, etal . Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. . Am. J. Physiol. . 277 . 6 Pt 1 . C1210–9 . 2000 . 10600773 . 10.1152/ajpcell.1999.277.6.C1210.
• Casula S, Shmukler BE, Wilhelm S, etal . 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 . 2001 . 11551954 . 10.1074/jbc.M107155200 . free .
• Howard HC, Mount DB, Rochefort D, etal . 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 . 2002 . 12368912 . 10.1038/ng1002 . 23820724 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Bräuer M, Frei E, Claes L, etal . 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 . 2003 . 12637262 . 10.1152/ajpcell.00289.2002 .
• Bergeron MJ, Gagnon E, Wallendorff B, etal . Ammonium transport and pH regulation by K⁺-Cl⁻ cotransporters. . Am. J. Physiol. Renal Physiol. . 285 . 1 . F68–78 . 2003 . 12657561 . 10.1152/ajprenal.00032.2003 . 7129055 .
• Shen MR, Lin AC, Hsu YM, etal . 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 . 2004 . 15262997 . 10.1074/jbc.M406706200 . free .
• Mercado A, Vázquez N, Song L, etal . NH₂-terminal heterogeneity in the KCC3 K⁺-Cl⁻ cotransporter. . Am. J. Physiol. Renal Physiol. . 289 . 6 . F1246–61 . 2005 . 16048901 . 10.1152/ajprenal.00464.2004 . 43713884 .
• Uyanik G, Elcioglu N, Penzien J, etal . Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. . Neurology . 66 . 7 . 1044–8 . 2006 . 16606917 . 10.1212/01.wnl.0000204181.31175.8b . 280621 .
• Hsu YM, Chou CY, Chen HH, etal . 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 . 2007 . 17133354 . 10.1002/jcp.20859 . 21615465 . free .
• Salin-Cantegrel A, Rivière JB, Dupré N, etal . Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. . Neurology . 69 . 13 . 1350–5 . 2007 . 17893295 . 10.1212/01.wnl.0000291779.35643.15 . 22747004 .
• Hsu YM, Chen YF, Chou CY, etal . KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition. . Cancer Res. . 67 . 22 . 11064–73 . 2007 . 18006853 . 10.1158/0008-5472.CAN-07-2443 . free .

Notes and References

1. Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR . Grant Robert Sutherland . Cloning, characterization, and chromosomal location of a novel human K⁺-Cl⁻ cotransporter . J Biol Chem . 274 . 15 . 10661–7 . May 1999 . 10187864 . 10.1074/jbc.274.15.10661 . free .
2. Mount DB, Mercado A, Song L, Xu J, ((George AL Jr)), Delpire E, Gamba G . Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family . J Biol Chem . 274 . 23 . 16355–62 . Jul 1999 . 10347194 . 10.1074/jbc.274.23.16355 . free .
3. Web site: Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6.