Aliases for CLCNKB Gene
External Ids for CLCNKB Gene
The protein encoded by this gene 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. [provided by RefSeq, Sep 2009]
GeneCards Summary for CLCNKB Gene
CLCNKB (Chloride Channel, Voltage-Sensitive Kb) is a Protein Coding gene. Diseases associated with CLCNKB include bartter syndrome, type 3 and bartter disease. Among its related pathways are Activation of cAMP-Dependent PKA and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include voltage-gated chloride channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN7.
UniProtKB/Swiss-Prot for CLCNKB Gene
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.