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Article

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 2025

Zbikowski Arkadiusz, Kowalczyk Tomasz, Kasparek Petr, Prohazka Jan, Sedlacek Radislav, Ciborowski Michał, Cysewski Dominik, Łukasiewicz Kacper

Abstract excerpt

Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining cellular homeostasis by regulating protein trafficking between cellular membranes. This function impacts crucial processes like apoptosis, mitochondria-endoplasmic reticulum interaction, and subsequently Ca2+ flux, lipid biosynthesis, and autophagy. Missense mutations, particularly E209K and E211K, are linked to developmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39738582
DOI: 10.1007/s00335-024-10098-5

Genes

PACS2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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