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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.
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
, deafness, autosomal recessive 73