SHANK3

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.
References in periodicals archive ?
They also plan to use the Purkinje cell platform to study other ASD-related genetic disorders, including Fragile X and SHANK3 mutation, and to test potential drugs.
Two of the autism-related proteins, called SHANK3 and TSC1, had a surprisingly cozy relationship.
They found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning.
Previous research has shown that gene mutation in SHANK3 is associated with delayed language abilities, learning disability, and ASDs.
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Initially, the scientists will focus on a rare mutation in a gene called SHANK3.
Mutations in a gene at one end of chromosome 22 (orange line) that is involved in nerve cell communication, SHANK3, are linked to some cases of one nonverbal form of autism.
Previous research has shown that a gene mutation in the brain called SHANK3 can cause absent or severely delayed language abilities, intellectual disability, and autism.
Researchers at Mount Sinai School of Medicine developed mice with a mutant SHANK3 gene and observed a lapse in communication between nerve cells in the brain, which can lead to learning problems.
They plan to mutate a gene called SHANK3 in fertilized eggs, producing monkeys that can be used to study the basic science of the disorder and test possible drug treatments.
Mutations in genes with names such as SHANK3, SHANK2 and NRXN1 have been linked to autism.