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SLC12A6 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. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.
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Protein Aliases: DKFZP434D2135; Electroneutral potassium-chloride cotransporter 3; furosemide-sensitive KCl cotransporter 3; K-Cl cotransporter 3; potassium chloride cotransporter 3; potassium chloride cotransporter KCC3a-S3; potassium-chloride transporter-3a; potassium-chloride transporter-3b; solute carrier family 12 (potassium/chloride transporter), member 6; solute carrier family 12 (potassium/chloride transporters), member 6; Solute carrier family 12 member 6
Gene Aliases: 9530023I19Rik; ACCPN; gaxp; KCC3; KCC3A; KCC3B; SLC12A6
UniProt ID: (Human) Q9UHW9, (Mouse) Q924N4
Entrez Gene ID: (Human) 9990, (Mouse) 107723, (Rat) 691209
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