Bartter syndrome infantile with sensorineural deafness
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
deafness, autosomal recessive 73
Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.
Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.
Involvement in disease
Bartter syndrome 4A
Cell membrane. Cytoplasm. A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral.