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SLC12A6 / KCC3 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.
Gene Name: | solute carrier family 12 (potassium/chloride transporter), member 6 |
Family/Subfamily: | Transporter , Cation:chloride symporter |
Synonyms: | SLC12A6, ACCPN, KCC3A, KCC3, K-Cl cotransporter 3, KCC3B |
Target Sequences: | NM_005135 NP_005126.1 Q9UHW9 |
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