SHANK3

(redirected from DEL22q13.3)

SHANK3

A gene on chromosome 22q13.3 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.

Molecular pathology
SHANK3 mutations are a cause of autism spectrum disorder, and are linked to the neurologic changes of 22q13.3 deletion syndrome.