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Article

A Highly Conserved Glycine in a Hotspot for Neurological Disease Mutations in Na+,K+-ATPase Is Critical to Na+ and K+ Occlusion.

Biomolecules - 17 Apr 2026

Toustrup-Jensen Mads S, Holm Rikke, Andersen Jens Peter, Vilsen Bente

Abstract excerpt

Na+,K+-ATPase possesses a highly conserved glycine (G358 in the α3 isoform) that-together with a nearby isoleucine (I363 in α3)-is targeted by mutations causing some of the most severe neurological phenotypes of the clinical spectrum of α3-Na+,K+-ATPase mutations. The disease mutations α3-G358V and α3-I363N affect Na+ and K+ transport to an extent incompatible with cell growth. However, alanine replacement of the...

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Identifiers

PMID: 42072722
DOI: 10.3390/biom16040601
PMCID: PMC13113771

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