Literature associating SLC12A3 and Bartter disease
Solute carrier family 12 (sodium/chloride transporter), member 3; Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption. Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).
Synonyms: SLC12A3, SLC12A3p, hSLC12A3, J3QSS1, P55017 ...