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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)
Top mentioned proteins: CAN, CaM, HAD, PSD-95, OUT
Papers on Syngap
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
Das et al., Chicago, United States. In Clin Genet, 19 Mar 2015
Nine of the eleven cases harbored mutations in autosomal genes including AP4B1, STXB1, SYNGAP1, TCF4 and UBE3A.
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.
Bassett et al., Canada. In Biol Psychiatry, 15 Feb 2015
Predicted gene targets driving these results included CAPRIN1, NEDD4, NTRK2, PAK2, RHOA, and SYNGAP1.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Piton et al., Illkirch-Graffenstaden, France. In J Med Genet, Nov 2014
RESULTS: We identified 26 causative mutations: 16 in X-linked genes (ATRX, CUL4B, DMD, FMR1, HCFC1, IL1RAPL1, IQSEC2, KDM5C, MAOA, MECP2, SLC9A6, SLC16A2, PHF8) and 10 de novo in autosomal-dominant genes (DYRK1A, GRIN1, MED13L, TCF4, RAI1, SHANK3, SLC2A1, SYNGAP1).
Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly.
Rumbaugh et al., Jupiter, United States. In Biol Psychiatry, Sep 2014
BACKGROUND: Genetic haploinsufficiency of SYNGAP1/Syngap1 commonly occurs in developmental brain disorders, such as intellectual disability, epilepsy, schizophrenia, and autism spectrum disorder.
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Care4Rare Canada et al., Ottawa, Canada. In Clin Genet, Aug 2014
In the eight families we identified mutations in genes associated with known neurological and epilepsy disorders: ASAH1, FOLR1, GRIN2A (two families), SCN8A, SYNGAP1 and SYNJ1.
Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link?
Curatolo et al., Roma, Italy. In Brain Dev, Mar 2014
The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5).
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Eichler et al., Seattle, United States. In Nat Commun, 2013
These include CHD2 and SYNGAP1, genes previously reported in related disorders, and novel genes TRIP12 and PAX5.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Mefford et al., Seattle, United States. In Nat Genet, 2013
We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively.
The MEF2 family and the brain: from molecules to memory.
Dietrich, Strasbourg, France. In Cell Tissue Res, 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.
Expression of non-protein-coding antisense RNAs in genomic regions related to autism spectrum disorders.
Faghihi et al., Miami, United States. In Mol Autism, 2012
Interestingly, the antisense RNA corresponding to the SYNGAP1 locus (SYNGAP1-AS) was found to be differentially expressed in brain regions of patients with ASD compared to control individuals.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Strom et al., Zürich, Switzerland. In Lancet, 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.
Rumbaugh et al., Jupiter, United States. In Cell, 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.
Kalkman, Basel, Switzerland. In Neurosci Biobehav Rev, 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.
SynGAP isoforms exert opposing effects on synaptic strength.
Kind et al., Edinburgh, United Kingdom. In Nat Commun, 2011
Overexpression of SynGAP alpha1 versus alpha2 C-termini-containing proteins in hippocampal neurons has opposing effects on synaptic strength, decreasing and increasing miniature excitatory synaptic currents amplitude/frequency, respectively.
Molecular and behavioral changes associated with adult hippocampus-specific SynGAP1 knockout.
Knuesel et al., China. In Learn Mem, 2011
This study demonstrated the functional significance of SynGAP1 signaling in the adult brain by capturing several changes that are dependent on NMDAR and hippocampal integrity.
SynGAP moves out of the core of the postsynaptic density upon depolarization.
Dosemeci et al., 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.
Hingtgen et al., 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 autosomal dominant mutation in SYNGAP1.
Cook, 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.
Functional impact of global rare copy number variation in autism spectrum disorders.
Betancur et al., 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.
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Synapse to Disease Group et al., Montréal, Canada. In N Engl J Med, 2009
Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation.
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