The SYNGAP1 gene, located on chromosome 6, provides instructions for making SynGAP, a protein with an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the "wiring" in the circuitry of the brain. Synapses are able to change and adapt over time, rewiring brain circuits, which is critical for learning and memory. SynGAP helps regulate synapse adaptations and promotes proper brain wiring. The protein's function is particularly important during a critical period of early brain development that affects future cognitive ability.GHR
SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene, most of which appear to be dominant and de novo. SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment, estimated to account for 1 to 2 percent of intellectual disability cases.GHR
The Bridge the Gap – SYNGAP – Education and Research Foundation is a nonprofit to serve, educate and fund research for families coping with the effects of SYNGAP mutations, and it includes a patient registry.