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Article

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.

Pflugers Archiv : European journal of physiology - 1 Sept 2014

Andrini Olga, Keck Mathilde, L'Hoste Sébastien, Briones Rodolfo, Mansour-Hendili Lamisse, Grand Teddy, Sepúlveda Francisco V, Blanchard Anne, Lourdel Stéphane, Vargas-Poussou Rosa, Teulon Jacques

Abstract excerpt

ClC-Kb, a member of the ClC family of Cl(-) channels/transporters, plays a major role in the absorption of NaCl in the distal nephron. CLCNKB mutations cause Bartter syndrome type 3, a hereditary renal salt-wasting tubulopathy. Here, we investigate the functional consequences of a Val to Met substitution at position 170 (V170M, α helix F), which was detected in eight patients displaying a mild phenotype....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24271511
DOI: 10.1007/s00424-013-1401-2

Genes

CLCNKB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.PMID 24271511Read ↗

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