DISEASES

Disease-gene associations mined from literature

Literature associating SLC12A3 and Bartter disease

SLC12A3 [ENSP00000402152]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM