Description
Product Characteristics: FUNCTION: 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. Subcellular location: Cell membrane, Multi-pass membrane protein. Golgi apparatus membrane, Multi-pass membrane protein. Note: Recruited to the plasma membrane in the presence of BSND protein, whereas remains in the Golgi in its absence. Tissue specificity: Expressed predominantly in the kidney. Expressed in all segments of the nephron examined, including the S2 segment and the glomerulus.,Voltage-gated,Chloride channel Kb, ClC-K2, CLCKB
Target Information: 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]