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Article

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

Pflugers Archiv : European journal of physiology - 1 Feb 2012

Lourdel Stéphane, Grand Teddy, Burgos Johanna, González Wendy, Sepúlveda Francisco V, Teulon Jacques

Abstract excerpt

Dent's disease is an X-linked recessive disorder affecting the proximal tubules. Mutations in the 2Cl(-)/H(+) exchanger ClC-5 gene CLCN5 are frequently associated with Dent's disease. Functional characterization of mutations of CLCN5 have helped to elucidate the physiopathology of Dent's disease and provided evidence that several different mechanisms underlie the ClC-5 dysfunction in Dent's disease. Modeling...

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Source

Identifiers

PMID: 22083641
DOI: 10.1007/s00424-011-1052-0

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.PMID 22083641Read ↗

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structureSemantic proximity Read ↗

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Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.Semantic proximity Read ↗

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.Semantic proximity Read ↗

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.Semantic proximity Read ↗

Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.Semantic proximity Read ↗

TMEM9 and SEC22B interact with ClC-5 to shape renal proximal tubule function and Dent’s Disease type I pathogenesisSemantic proximity Read ↗

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