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Article

Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2007

Paul Jochen, Jeyaraj Sankarganesh, Huber Stephan M, Seebohm Guiscard, Böhmer Christoph, Lang Florian, Kremsner Peter G, Kun Jürgen F J

Abstract excerpt

Mutations in the human ClC-2 Cl(-) channel have been described to influence its function dramatically. To test for naturally occurring gene variants in a human population and their functionality, all 24 CLCN2 exons from a Central African population were sequenced. Six single amino acid exchanges in the intracellular N-terminus (P48R, R68H), in the pore domain (G199A), or in the intracellular C-terminus (R646Q,...

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Source

Identifiers

PMID: 17762171
DOI: 10.1159/000107528

Genes

CLCN2

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.

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