SYGP1 Polyclonal Antibody

alternative products:Additional isoforms seem to exist,caution:It is uncertain whether Met-1 or Met-16 is the initiator methionine.,disease:Defects in SYNGAP1 are the cause of mental retardation autosomal dominant type 5 (MRD5) [MIM:612621]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment.,function:Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits.,PTM:Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption.,similarity:Contains 1 C2 domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 Ras-GAP domain.,subunit:Interacts CAMK2A and CAMK2B (By similarity). Interacts with MPDZ.,