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 ?
The three conditions to be studied by the Consortium-tuberous sclerosis complex(caused by mutations in the TSC1 and TSC2 genes), Phelan-McDermid syndrome (caused by SHANK3 mutations) and PTEN Hamartoma Tumor Syndrome (caused by PTEN mutations)-seem to affect certain shared pathways influencing the development of brain connections, or synapses.
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.
The researcher team wanted to better understand the connection between the SHANK3 mutation and subsequent brain and behavioral difficulties.
They examined mice genetically engineered to lack one copy of SHANK3, similar to patients who have a mutation in one copy of SHANK3, and compared the nerve cell activity of these mice with that of mice in a control group that did not have the mutation.
The research team observed impaired communication between nerve cells in the mice with the SHANK3 mutation.
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.
If these data are further verified in additional preclinical studies, individuals with a SHANK3 mutation may benefit from treatments with compounds like this one.
Mutations in genes with names such as SHANK3, SHANK2 and NRXN1 have been linked to autism.