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Article

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

European journal of human genetics : EJHG - 1 Oct 2021

Webb Bryn D, Hotchkiss Hilary, Prasun Pankaj, Gelb Bruce D, Satlin Lisa

Abstract excerpt

KCNJ16 encodes Kir5.1 and acts in combination with Kir4.1, encoded by KCNJ10, to form an inwardly rectifying K+ channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This Kir4.1/Kir5.1 channel is critical for controlling basolateral membrane potential and K+ recycling, the latter coupled to Na-K-ATPase activity, which determines renal Na+ handling. Previous work has shown that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33840812
DOI: 10.1038/s41431-021-00883-0
PMCID: PMC8484552

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.

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