Aliases for CLCNKB Gene
External Ids for CLCNKB Gene
Previous GeneCards Identifiers 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 Voltage-Gated Channel Kb) is a Protein Coding gene. Diseases associated with CLCNKB include Bartter Syndrome, Type 3 and Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness. Among its related pathways are Activation of cAMP-Dependent PKA and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCNKA.
UniProtKB/Swiss-Prot Summary 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.