Biology:SLC12A6

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.

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.

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

• "Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter.". Am. J. Physiol. 277 (6 Pt 1): C1210–9. 2000. doi:10.1152/ajpcell.1999.277.6.C1210. PMID 10600773. 
• "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. doi:10.1074/jbc.M107155200. PMID 11551954. 
• "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. doi:10.1038/ng1002. PMID 12368912. 
• "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "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. doi:10.1152/ajpcell.00289.2002. PMID 12637262. 
• "Ammonium transport and pH regulation by K⁺-Cl⁻ cotransporters.". Am. J. Physiol. Renal Physiol. 285 (1): F68–78. 2003. doi:10.1152/ajprenal.00032.2003. PMID 12657561. 
• "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. doi:10.1074/jbc.M406706200. PMID 15262997. 
• "NH₂-terminal heterogeneity in the KCC3 K⁺-Cl⁻ cotransporter.". Am. J. Physiol. Renal Physiol. 289 (6): F1246–61. 2005. doi:10.1152/ajprenal.00464.2004. PMID 16048901. 
• "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.". Neurology 66 (7): 1044–8. 2006. doi:10.1212/01.wnl.0000204181.31175.8b. PMID 16606917. 
• "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. doi:10.1002/jcp.20859. PMID 17133354. 
• "Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.". Neurology 69 (13): 1350–5. 2007. doi:10.1212/01.wnl.0000291779.35643.15. PMID 17893295. 
• "KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.". Cancer Res. 67 (22): 11064–73. 2007. doi:10.1158/0008-5472.CAN-07-2443. PMID 18006853. https://aacr.figshare.com/articles/journal_contribution/Supplementary_Figure_1_from_KCl_Cotransporter-3_Down-regulates_E-Cadherin_-Catenin_Complex_to_Promote_Epithelial-Mesenchymal_Transition/22370018/1/files/39815096.pdf. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.