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PACS2

Official Full Name
phosphofurin acidic cluster sorting protein 2
Organism
Homo sapiens
GeneID
23241
Background
Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Feb 2025]
Synonyms
DEE66; EIEE66; PACS-2; PACS1L;

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