BSND Antibody – Rabbit Polyclonal

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, Jul 2008]

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. Ref.3 Ref.4

Subunit structure: Interacts with CLCNK channels. Forms heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments

By similarity. Ref.3 Ref.4

Subcellular location: Cell membrane; Multi-pass membrane protein

By similarity. Cytoplasm

By similarity. Note: 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. Ref.3 Ref.4

Tissue specificity: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. Ref.1

Involvement in disease: Bartter syndrome 4A (BS4A) [MIM:602522]: 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. Bartter syndrome type 4 is associated with sensorineural deafness.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4 Ref.5 Ref.6

Sequence caution: The sequence BC069510 differs from that shown. Reason: Frameshift at several positions.