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CLCNKB is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene Name: | chloride channel, voltage-sensitive Kb |
Family/Subfamily: | Ion Channel , Chloride channel - CLCK |
Synonyms: | CLCNKB, Bartter syndrome Type 3, Chloride channel, kidney, B, Chloride channel Kb, ClC-Kb, ClC-K2, CLCKB, HClC-Kb |
Target Sequences: | NM_000085 NP_000076.2 P51801 |
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