Distal convoluted tubule cell

Schematic diagram of distal convoluted tubule cell demonstrating the location of NCC protein, which is dysfunctional in Gitelman syndrome (GS), and ClC-Kb, which is dysfunctional in Bartter syndrome 3 (which can produce a Gitelman-like syndrome [GLS] clinical phenotype). The transmembrane voltage in this segment is near to 0. Basolateral potassium channels are composed of 2 subunits encoded by KCNJ10 and KCNJ16, known as Kir4.1 and Kir5.1, respectively. Mutations in KCNJ10 cause EAST (epilepsy, ataxia, sensorineural deafness, tubulopathy) syndrome. Mutations in KCNJ16 cause hypokalemic tubulopathy and deafness (HKTD). Distal convoluted tubule cells are atrophied in patients with GLS.