Gene:
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Gene ID:
200813
Symbol:
BSND
Species:
1000
Description:
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.