BSND

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq]

Full Name

Bartter syndrome, infantile, with sensorineural deafness (Barttin)

Function

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.

Biological Process

Chloride transport Source: GO_Central
Ion transmembrane transport Source: Reactome

Cellular Location

Cytoplasm; Cell membrane. A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity).

Involvement in disease

Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A): A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness.

Topology

Cytoplasmic: 1-5 aa
Helical: 6-26 aa
Extracellular: 27-32 aa
Helical: 33-53 aa
Cytoplasmic: 54-320 aa

PTM

Palmitoylation is necessary for activation of plasma membrane-inserted CLC-K/barttin channels.