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bsnd

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Official Full Name
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Background
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.
Synonyms
BSND; Bartter syndrome, infantile, with sensorineural deafness (Barttin); deafness, autosomal recessive 73 , DFNB73; barttin; BART; deafness, autosomal recessive 73; DFNB73; MGC119283; MGC119284; MGC119285; BART, DFNB73