SHANK2


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SHANK2

A gene on chromosome 11q13.2 that encodes a member of the Shank gene family, which are multidomain scaffold proteins of the postsynaptic density (PSD) involved in synapse formation and dendritic spine maturation. The PSD connects neurotransmitter receptors, ion channels and other membrane proteins to the actin cytoskeleton and G protein-coupled signalling pathways.
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Wegener et al., "Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/ Shank2," Nature, vol.
Shank2 rare variants have also been identified in SCZ patients [185], and one of these variants has been related to ID [184].
The latter does not preclude the possibility that other Shank3 mutants or the other zinc-sensitive isoforms of Shank2 interact abnormally with zinc, a metal that participates in synaptic plasticity and exhibits homeostatic dysregulation in ASD and other neurological disorders [265, 266].