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SHANKs


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A family of adaptor proteins (SH3 and multiple ankyrin repeat domains proteins). SHANK1 (somatostatin receptor-interacting protein, 2161 aa), SHANK2 (cortactin-binding protein 1, 1253 aa) and SHANK3 (proline-rich synapse-associated protein 2, 1741 aa) are found in the postsynaptic density of excitatory synapses and may play a role in the structural and functional organization of the dendritic spine and synaptic junction. A chromosomal aberration that disrupts SHANK3/PSAP2 is responsible for the clinical features of chromosome 22q13.3 deletion syndrome, and defects in SHANK3 are a cause of autism spectrum disorders. Shank-interacting protein-like 1 (sharpin, SHANK-associated RH domain-interacting protein, 387 aa) may have a role in normal immune development and control of inflammation.

Subjects: Medicine and Health.


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