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.
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Protein Aliases: Chloride channel Ka; Chloride channel protein ClC-Ka; chloride channel, kidney, A; chloride channel, voltage-sensitive Ka; ClC-K1; CLC-KA; CLCKA
Gene Aliases: ClC-K1; CLCK1; CLCNKA; hClC-Ka
UniProt ID: (Human) P51800
Entrez Gene ID: (Human) 1187