(Synaptic Ras GTPase Activating Protein 1 (SYNGAP1))
The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009].
Rumbaugh, Adams, Kim, Huganir: "SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 103, Issue 12, pp. 4344-51, (2006) (PubMed).