Description
Product Characteristics:
The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport, and maintain cellular volume. CLC-KA is a kidney-specific chloride channel that mediates transepithelial chloride transport in the thin ascending limb of the Henle loop in the inner medulla. CLC-KA plays a crucial role in urine concentration. The gene encoding human CLC-KA maps to chromosome 1p36. Mutations in this gene may be associated with nephrogenic diabetes insipidus in those cases where mutations in the vasopressin V2 receptor and the AQP2 water channel are lacking. CLC-KB mediates basolateral chloride ion efflux in the thick ascending limb and in more distal nephron segments. The gene encoding human CLC-KB maps to chromosome 1p36. Mutations in this gene cause type III Barter?s syndrome which is characterized by renal salt-wasting and low blood pressure.
Subcellular location: Cell membrane
Synonyms: Bartter syndrome type 3, Chloride channel Kb, Chloride channel kidney B, Chloride channel protein ClC-Kb, Chloride channel voltage sensitive Kb, ClC K2, ClC-K2, ClCK2, CLCKB, CLCKB_HUMAN, CLCNKB, hClC Kb, hClCKb, MGC24087, OTTHUMP00000011120, OTTHUMP00000011121, RP11 5P18.8.
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]