SHANK2

The SHANK2 Foundation is a 501(c)(3) non-profit organization founded by two parents of children carrying pathogenic SHANK2 variants. To varying degrees, our children are affected by IDD and ASD as well as gross and fine motor deficiencies and mental health issues... To understand the role SHANK2 protein plays in brain function, a brief explanation of neurology may help: Neurons are the nerve cells in our bodies that send and receive sensory information to and from our brains, respectively. The human brain is estimated to have nearly 100 billion neurons. Each neuron is separated from its neighbor by a gap called a synapse. When one neuron sends a message to the next-using a chemical messenger called a neurotransmitter-the message crosses the synapse and is received on the next neuron by a receptor. A large number of receptors are found in a specific spot in the neuron - the postsynaptic density (PSD). In the PSD, SHANK2 works with other proteins, including SHANK1 and SHANK3, to build..

Also known as: SHANK2 Foundation