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Article

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.

Journal of human genetics - 1 Apr 2024

Nakashima Moeko, Shiroshima Tomoko, Fukaya Masahiro, Sugawara Takeyuki, Sakagami Hiroyuki, Yamazawa Kazuki

Abstract excerpt

IQSEC2 gene on chromosome Xq11.22 encodes a member of guanine nucleotide exchange factor (GEF) protein that is implicated in the activation of ADP-ribosylation factors (Arfs) at the postsynaptic density (PSD), and plays a crucial role in synaptic transmission and dendritic spine formation. Alterations in IQSEC2 have been linked to X-linked intellectual developmental disorders including epilepsy and behavioral...

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Identifiers

PMID: 38200111
DOI: 10.1038/s10038-023-01210-9

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