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Gene Review

Slc12a6  -  solute carrier family 12, member 6

Mus musculus

Synonyms: 9530023I19Rik, Electroneutral potassium-chloride cotransporter 3, K-Cl cotransporter 3, KCC3, Kcc3, ...
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Disease relevance of Slc12a6

  • Mice generated with a targeted deletion of Slc12a6 have a locomotor deficit, peripheral neuropathy and a sensorimotor gating deficit, similar to the human disease [1].

High impact information on Slc12a6


Anatomical context of Slc12a6


  1. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Howard, H.C., Mount, D.B., Rochefort, D., Byun, N., Dupré, N., Lu, J., Fan, X., Song, L., Rivière, J.B., Prévost, C., Horst, J., Simonati, A., Lemcke, B., Welch, R., England, R., Zhan, F.Q., Mercado, A., Siesser, W.B., George, A.L., McDonald, M.P., Bouchard, J.P., Mathieu, J., Delpire, E., Rouleau, G.A. Nat. Genet. (2002) [Pubmed]
  2. Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. Boettger, T., Rust, M.B., Maier, H., Seidenbecher, T., Schweizer, M., Keating, D.J., Faulhaber, J., Ehmke, H., Pfeffer, C., Scheel, O., Lemcke, B., Horst, J., Leuwer, R., Pape, H.C., Völkl, H., Hübner, C.A., Jentsch, T.J. EMBO J. (2003) [Pubmed]
  3. Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3. Rust, M.B., Faulhaber, J., Budack, M.K., Pfeffer, C., Maritzen, T., Didié, M., Beck, F.X., Boettger, T., Schubert, R., Ehmke, H., Jentsch, T.J., Hübner, C.A. Circ. Res. (2006) [Pubmed]
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