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.
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Datasheet