SYNGAP1 Antibody

1. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. PMID: 26079862
2. This is the first description of a special electroencephalogram phenomenon (normalization with eye opening) in association with SYNGAP1 mutations. PMID: 26110312
3. Syngap transgenic mice exhibited alterations in long-term depression and dendritic spine morphology. PMID: 26558778
4. 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
5. Reduced cognition in mutant Syngap1 transgenic mice is caused by isolated damage to developing forebrain neurons. PMID: 24945774
6. De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
7. 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
8. 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
9. We provide evidence that truncating mutations in SYNGAP1 are common in nonsyndromic intellectual disability and can be also associated with autism. PMID: 21237447
10. The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction. PMID: 18323856
11. Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. PMID: 19196676

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HGNC: 11497

OMIM: 603384

KEGG: hsa:8831

STRING: 9606.ENSP00000403636

UniGene: Hs.586264