Aliases for SLC12A5 Gene
External Ids for SLC12A5 Gene
Previous GeneCards Identifiers for SLC12A5 Gene
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
GeneCards Summary for SLC12A5 Gene
SLC12A5 (Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 5) is a Protein Coding gene. Diseases associated with SLC12A5 include gitelman syndrome and hypothalamic hamartomas. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. GO annotations related to this gene include potassium:chloride symporter activity. An important paralog of this gene is SLC12A2.
UniProtKB/Swiss-Prot for SLC12A5 Gene
Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons