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Article

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

Disease models & mechanisms - 1 Jun 2024

Matsell Eli, Andersen Jens Peter, Molday Robert S

Abstract excerpt

P4-ATPases flip lipids from the exoplasmic to cytoplasmic leaflet of cell membranes, a property crucial for many biological processes. Mutations in P4-ATPases are associated with severe inherited and complex human disorders. We determined the expression, localization and ATPase activity of four variants of ATP8A2, the P4-ATPase associated with the neurodevelopmental disorder known as cerebellar ataxia, impaired...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38436085
DOI: 10.1242/dmm.050546
PMCID: PMC11073571

Genes

ATP8A2

Provenance

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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