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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DKFZP434D2135; Electroneutral potassium-chloride 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
基因别名: ACCPN; KCC3; KCC3A; KCC3B; SLC12A6
UniProt ID: (Human) Q9UHW9
Entrez Gene ID: (Human) 9990