solute carrier family 12 (potassium/chloride transporters), member 6
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. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.
SLC12A6; solute carrier family 12 (potassium/chloride transporters), member 6; ACCPN, agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome) , KCC3; solute carrier family 12 member 6; ACCPN; Furosemide sensitive KCl cotransporter 3; Gaxp; KCC 3; KCC 3A; KCC 3B; KCC3 A; KCC3; KCC3 B; KCC3A; KCC3B; Potassium chloride cotransporter 3; Potassium chloride cotransporter KCC3a S3; SLC12 A6; SLC12A 6; Solute carrier family 12, member 6; OTTHUMP00000159813; K-Cl cotransporter 3; potassium-chloride transporter-3a; potassium-chloride transporter-3b; potassium chloride cotransporter KCC3a-S3; electroneutral potassium-chloride cotransporter 3