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Rabbit Anti-SynGAP/FITC Conjugated antibody
background:
The PSD-95/SAP 90 family of proteins, which are known to bind to and cluster various membrane proteins, are involved in the organization of synaptic structure. SynGAP (for synaptic GTPase activating protein), a novel synaptic RasGAP, is a brain-specific protein abundant in the cortex, hippocampus and olfactory bulb. SynGAP interacts with all three PDZ domains within PSD-95/ SAP 90 proteins. It represents one of three classes of mammalian RasGAPs and is specifically localized to excitatory synapses possessing NMDA receptors. SynGAP may be involved in the regulation of BDNF as well as Ras signaling. Its activity is inhibited by phosphorylation by CaMKII, which could result in the activation of the MAP kinase pathway.
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.
Subunit:
Interacts KLHL17, CAMK2A and CAMK2B. Interacts with MPDZ.
Post-translational modifications:
Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption.
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. Autism can be present in some patients.
Similarity:
Contains 1 C2 domain.
Contains 1 PH domain.
Contains 1 Ras-GAP domain.
Database links:
Entrez Gene: 8831 Human
Entrez Gene: 48057 Mouse
Entrez Gene: 192117 Rat
Omim: 603384 Human
SwissProt: Q96PV0 Human
SwissProt: Q9QUH6 Rat
Unigene: 586264 Human
Unigene: 9908 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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