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Article

Inefficient maturation of disease-linked mutant forms of the KCC2 potassium-chloride cotransporter correlates with predicted pathogenicity.

The Journal of biological chemistry - 1 Apr 2025

Kok Morgan, Singh Ishika, Aizenman Elias, Brodsky Jeffrey L

Abstract excerpt

The potassium-chloride cotransporter 2 (KCC2) is required for neuronal development, and KCC2 dysregulation is implicated in several neurodevelopmental disorders, including schizophrenia, autism, and epilepsy. A dozen mutations in the KCC2-encoding gene, SLC12A5, are associated with these disorders, but few are fully characterized. To this end, we examined KCC2 biogenesis in a HEK293 cell model. While most of the...

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Identifiers

PMID: 40074080
DOI: 10.1016/j.jbc.2025.108399
PMCID: PMC12001125

Genes

SLC12A5

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

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