Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)

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RASA1; RASA5; SYNGAP; Ras/Rap GTPase-activating protein SynGAP; Neuronal RasGAP

Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)
SYNGAP1 is a ras GTPase-activating protein that is critical for cognition and synapse function. Mutations in humans cause mental retardation.
Several mutations in the SYNGAP1 gene were identified as the cause of mental retardation. Mental retardation is sometimes associated with syndromes of other defects caused by the same gene, but SYNGAP1-associated mental retardation is not; it is therefore called non-syndromic mental retardation. Since neither of the parents of children with this condition have the mutation, this means it was a sporadic mutation that occurred during division of the parents' gametes (meiosis) or fertilization of the egg. It is a dominant mutation, which means that the individual will be retarded if only one allele is mutated.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)CLIA Kit Customized Service Offer
n/aELISA Kit for Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)CLIA Kit Customized Service Offer
n/aELISA Kit for Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)CLIA Kit Customized Service Offer
n/aELISA Kit for Synaptic Ras GTPase Activating Protein 1 (SYNGAP1)ELISA Kit Customized Service Offer
  1. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation."Neuron 43:563-574(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation." N. Engl. J. Med. 360:599-605(2009) [PubMed] [Europe PMC] [Abstract]
  6. "A de novo paradigm for mental retardation."Nat. Genet. 42:1109-1112(2010) [PubMed] [Europe PMC] [Abstract]
  7. "De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism."Biol. Psychiatry 69:898-901(2011) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency." Hum. Mutat. 34:385-394(2013) [PubMed] [Europe PMC] [Abstract]