Aliases for BSND Gene
External Ids for BSND Gene
Previous HGNC Symbols for BSND Gene
Previous GeneCards Identifiers for BSND Gene
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]
GeneCards Summary for BSND Gene
BSND (Barttin CLCNK Type Accessory Beta Subunit) is a Protein Coding gene. Diseases associated with BSND include Bartter Syndrome, Type 4A and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Ion channel transport and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include chloride channel activity and chloride channel regulator activity.
UniProtKB/Swiss-Prot for BSND Gene
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.