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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits.
基因功能參考文獻:
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. PMID: 26079862
This is the first description of a special electroencephalogram phenomenon (normalization with eye opening) in association with SYNGAP1 mutations. PMID: 26110312
Syngap transgenic mice exhibited alterations in long-term depression and dendritic spine morphology. PMID: 26558778
Phosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPases. PMID: 25533468
Reduced cognition in mutant Syngap1 transgenic mice is caused by isolated damage to developing forebrain neurons. PMID: 24945774
De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
De novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function, causing intellectual disability, autism, and a specific form of epilepsy. PMID: 23161826
SYNGAP1 is a brain-specific protein that interacts with key components of the proteins involved in experience-dependent changes in glutamate synapses involved in learning. PMID: 21480541
We provide evidence that truncating mutations in SYNGAP1 are common in nonsyndromic intellectual disability and can be also associated with autism. PMID: 21237447
The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction. PMID: 18323856
Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. PMID: 19196676