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. Mouse monoclonal antibody raised against a partial recombinant BSND.
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References
A naturally occurring BSND mutation differentially impairs barttin regulation of distinct CIC-K isoforms
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