Literature associating SLC12A5 and early infantile epileptic encephalopathy 34
Solute carrier family 12 (potassium/chloride transporter), member 5; Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation; Solute carriers
Synonyms: SLC12A5, SLC12A5p, hSLC12A5, B7Z3I0, B7Z3T3 ...