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Article

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Journal of medical genetics - 19 Jul 2024

Centeno-Pla Mónica, Alcaide-Consuegra Estefanía, Gibson Sophie, Prat-Planas Aina, Gutiérrez-Ávila Juan Diego, Grinberg Daniel, Urreizti Roser, Rabionet Raquel, Balcells Susanna

Abstract excerpt

Schaaf-Yang syndrome (SYS) is an ultra-rare neurodevelopmental disorder caused by truncating mutations in MAGEL2 Heterologous expression of wild-type (WT) or a truncated (p.Gln638*) C-terminal HA-tagged MAGEL2 revealed a shift from a primarily cytoplasmic to a more nuclear localisation for the truncated protein variant. We now extend this analysis to six additional SYS mutations on a N-terminal FLAG-tagged...

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Source

Identifiers

PMID: 38548315
DOI: 10.1136/jmg-2024-109898

Genes

MAGEL2

Variants

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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