基因名称(Gene Name)
SYNGAP1 KIAA1938
蛋白名称
Ras GTPase-activating protein SynGAP (Neuronal RasGAP) (Synaptic Ras GTPase-activating protein 1) (Synaptic Ras-GAP 1)
免疫原
Synthesized peptide derived from part region of human protein
特异性
SYGP1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
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 plastici
