Synaptic Ras Gtpase Activating Protein 1 Homolog (SYNGAP1) Antibody – Rabbit Polyclonal

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]

SynGAP: an excitatory synapse-specific RasGAP. Member of the NMDAR signaling complex in excitatory synapses it may play a role in NMDAR-dependent control of AMPAR potentiation and synaptic plasticity. ERK activation is up-regulated in neurons from SynGAP knockout mice, whereas P38 MAPK function is depressed. May play a critical role in the regulation of neuronal MAPK signaling, AMPAR membrane trafficking, and excitatory synaptic transmission. Interacts with CAMK2A/CAMK2B and MPDZ. Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Contains a PH domain and a Ras-GAP domain. Two alternatively spliced isoforms have been described.

Protein type: GAPs; GAPs, Ras

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: cytoplasm; dendritic shaft

Molecular Function: SH3 domain binding

Biological Process: regulation of long-term neuronal synaptic plasticity; regulation of synapse structure and activity; regulation of MAPKKK cascade; Ras protein signal transduction; dendrite development; regulation of synaptic plasticity; visual learning; negative regulation of Ras protein signal transduction; negative regulation of axonogenesis; negative regulation of neuron apoptosis; pattern specification process; receptor clustering

Disease: Mental Retardation, Autosomal Dominant 5