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Article

Exploring the Cell Biological and Functional Effects of the First Disease Associated KCC1 Genetic Variant.

Journal of cellular physiology - 1 Dec 2025

Bloothooft Meye, Huang Jiahui, Hamze Mira, Houtman Marien J C, de Boer Teun P, van Hasselt Peter M, Ecker Gerhard F, Porcher Christophe, Medina Igor, van der Heyden Marcel A G

Abstract excerpt

The potassium chloride cotransporter 1 (KCC1) is ubiquitously expressed and essential for regulating cellular fluid balance. We identified a patient carrying a genetic variant (E1065K) in the KCC1 coding gene SLC12A4. This study explored the impact of the variant in ectopic cell systems and enhanced the understanding of cell biological properties of the KCC1 protein. KCC1 WT and E1065K DNA expression constructs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41414942
DOI: 10.1002/jcp.70124
PMCID: PMC12715662

Genes

SLC12A4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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