Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene. It is an important member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations under the electrochemical equilibrium potential. The proteins can be activated by cell swelling resulted from hypotonic conditions. It has many different isoforms, KCC3a and KCC3b included. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.
|Basic Information of SLC12A6|
|Protein Name||Solute carrier family 12 member 6|
|Aliases||Electroneutral potassium-chloride cotransporter 3, K-Cl cotransporter 3)|
|Organism||Homo sapiens (Human)|
SLC12A6 (KCC3) is a potassium (K+)/chloride (Cl-) symporter that controls chloride homeostasis in neurons. It can mediate electroneutral potassium-chloride cotransport and contribute to cell volume homeostasis in single cells. It has been reported that SLC12A6 can be activated by cell swelling. This protein participates in chloride symporter, potassium ion transmembrane transporter activity and protein kinase binding process. SLC12A6 influences many biological processes, including angiogenesis, cellular hypotonic response, cellular hypotonic salinity response, chemical synaptic transmission, ion transport and potassium ion import.
Fig.1 KCC3 downregulates E-cadherin/β-catenin complex formation by inhibiting transcription of E-cadherin gene and accelerating proteosome-dependent degradation of β-catenin protein. (Hsu, 2007)
This article identifies mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggests a critical role for SLC12A6 in the development and maintenance of the nervous system.
The authors find that KCC3 is expressed in many, but not all cells of the inner ear K(+) recycling pathway. Their mouse model successfully explains important cellular and systemic functions of KCC3 and shows great value for Anderman syndrome.
This article suggests that there is significant NH(2)-terminal heterogeneity of KCC3 in the kidney. It is likely for basolateral swelling-activated K(+)-Cl(-) cotransport to function in cell volume regulation during the transepithelial transport of both salt and solutes by the proximal tubule.
This article supports that fluid-related axonopathy, which will ultimately bring about neurodegeneration, can implicate cell volume regulation as a critical component of peripheral nerve maintenance.
This article identifies four novel single nucleotide exchanges (SNPs), none of them changes the coding sequence. It also negatively supports a major role for KCC3 in the etiology of rolandic epilepsy or common subtypes of IGE.
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