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Article

NKCC1 in human diseases: is the SLC12A2 gene haploinsufficient?

American journal of physiology. Cell physiology - 1 Aug 2023

Delpire Eric, Koumangoye Rainelli

Abstract excerpt

Mutations in the SLC12A2 gene, which encodes the Na-K-2Cl cotransporter-1 (NKCC1), are linked to various conditions such as neurodevelopmental deficits, deafness, and fluid secretion in different epithelia. Cases of complete NKCC1 deficiency in young patients are straightforward, leading to clinical presentations that overlap with the phenotypes observed in NKCC1 knockout mouse models. However, cases involving...

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Identifiers

PMID: 37399495
DOI: 10.1152/ajpcell.00238.2023
PMCID: PMC10393318

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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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