GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
Synaptic Ras GTPase activating protein 1
Syngap, SYNGAP1, p135 SynGAP, KIAA1938, synaptic RasGAP
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] (from
NCBI)
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Papers on
Syngap
The MEF2 family and the brain: from molecules to memory.
New
Strasbourg, France. In Cell Tissue Res, 09 Mar 2013
Among them are immediate-early genes such as C-JUN and NUR77 and neuronal-activity-regulated genes such as ARC, SYNGAP, HOMER1A and BDNF.
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
New
Montréal, Canada. In Hum Mutat, 28 Feb 2013
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID).
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Review
New
Impact
Zürich, Switzerland. In Lancet, Dec 2012
16 patients carried de-novo variants in known intellectual disability genes with three recurrently mutated genes (STXBP1, SYNGAP1, and SCN2A).
Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
New
Impact
Jupiter, United States. In Cell, Dec 2012
In the SYNGAP1 mouse model of ID/ASD, we found that dendritic spine synapses develop prematurely during the early postnatal period.
Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders.
New
Basel, Switzerland. In Neurosci Biobehav Rev, Nov 2012
In particular, a gain of function mutation in the CACNA1C gene, deletions and disruption of the SYNGAP1 gene, a copy number variation encompassing the MAPK3 gene and a duplication of YWHAE indicate that in a subset of autism patients the ERK cascade is inappropriately activated.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
New
Nürnberg, Germany. In Am J Hum Genet, Apr 2012
Just recently, de novo mutations in SYNGAP1, STXBP1, MEF2C, and GRIN2B were reported as relatively common causes of ID in such individuals.
Microarray analysis of rat hippocampus exposed to excitotoxicity: reversal Na(+)/Ca(2+) exchanger NCX3 is overexpressed in glial cells.
New
Guadalajara, Mexico. In Hippocampus, Feb 2012
Conversely, among genes that diminished their expression, we found the Syngap 1, which is downregulated by CaMKII, and the MHC II, which is downregulated by glutamate.
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Denmark. In Epilepsia, 2011
We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1.
SynGAP moves out of the core of the postsynaptic density upon depolarization.
GeneRIF
Bethesda, United States. In Neuroscience, 2011
Here, we characterize the distribution of SynGAP at the postsynaptic density under basal and depolarizing conditions in rat hippocampal neuronal cultures.
Reduced expression of SynGAP, a neuronal GTPase-activating protein, enhances capsaicin-induced peripheral sensitization.
GeneRIF
Indianapolis, United States. In J Neurophysiol, 2011
SynGAP is an important regulator of the release of the neuropeptide calcitonin gene-related peptide from primary sensory neurons and can modulate capsaicin-induced hypernociception.
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
GeneRIF
Montréal, Canada. In Biol Psychiatry, 2011
We provide evidence that truncating mutations in SYNGAP1 are common in nonsyndromic intellectual disability and can be also associated with autism.
De novo autosomal dominant mutation in SYNGAP1.
Review
GeneRIF
Chicago, United States. In Autism Res, 2011
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.
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Montréal, Canada. In Am J Hum Genet, 2011
De novo truncating and/or splicing mutations in SYNGAP1, STXBP1, and SHANK3 were found in six patients and are likely to be pathogenic.
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.
Roma, Italy. In Eur J Hum Genet, 2011
Consistent with phenotypic manifestations is haploinsufficiency of SYNGAP1, which was recently demonstrated to cause non-syndromic mental retardation, and of the flanking genes CuTA, a likely modulator of the processing and trafficking of secretory proteins in the human brain, and hPHF1, involved in HOX gene silencing.
Inactivation of Ras GTPase-activating proteins promotes unrestrained activity of wild-type Ras in human liver cancer.
Bethesda, United States. In J Hepatol, 2011
Levels of RAS GAPs (RASA1-4, RASAL1, nGAP, SYNGAP1, DAB2IP, and NF1) and the RASAL1 upstream inducer PITX1 were determined by real-time RT-PCR and immunoblotting.
Functional impact of global rare copy number variation in autism spectrum disorders.
Impact
Toronto, Canada. In Nature, 2010
Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus.
Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP.
GeneRIF
Switzerland. In Eur J Neurosci, 2010
Data show that deletion of SynGAP is associated with notable behavioral as well as morphological phenotypes indicative of hippocampal dysfunction.
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Impact
GeneRIF
Montréal, Canada. In N Engl J Med, 2009
Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation.
Synaptic Ras GTPase activating protein regulates pattern formation in the trigeminal system of mice.
GeneRIF
Edinburgh, United Kingdom. In J Neurosci, 2006
SynGAP, a synaptic Ras GTPase activating protein, is essential for the anatomical development of whisker-related patterns in the developing somatosensory pathways in rodent forebrain.
