This recombinant mouse Ras GTPase-activating protein SynGAP (Syngap1) is a semi-custom product. There are 5 expression system options: Yeast, E. coli, In Vivo Biotinylation in E. coli, Baculovirus, and Mammalian cell. Your requirements will be given top priority in determining the protein tags. For proteins within 800 aa, risk-free custom service is guaranteed. It means you will not be charged if the protein cannot be delivered.
SYNGAP1 is a cytosolic protein crucial for synaptic function in excitatory glutamatergic neurons [1]. SYNGAP1 gene is highly enriched at excitatory synapses in the brain and plays a significant role in dendritic spine maturation and synaptic plasticity [3][4]. SYNGAP1 negatively regulates Ras, Rap, and AMPA receptor trafficking, influencing synaptic plasticity and neuronal homeostasis [5]. Furthermore, SYNGAP1 is essential for synapse maturation during critical developmental stages [6].
Research has shown that SYNGAP1 mutations can lead to cognitive impairments due to damage within developing forebrain excitatory neurons [7]. Mutations in the SYNGAP1 gene have been associated with various conditions such as nonsyndromic intellectual disability, autism spectrum disorder, and developmental and epileptic encephalopathies [2]. Additionally, SYNGAP1 haploinsufficiency is responsible for a percentage of cases of non-syndromic intellectual disability, often linked to autism spectrum disorder [8][9]. SYNGAP1 is important for synaptic formation and function in cortical neurons, and its deficiency can impact pyramidal cell structural maturation and cortical circuit assembly [10].
References:
[1] M. Agarwal, M. Johnston, & C. Stafstrom, syngap1 mutations: clinical, genetic, and pathophysiological features, International Journal of Developmental Neuroscience, vol. 78, no. 1, p. 65-76, 2019. https://doi.org/10.1016/j.ijdevneu.2019.08.003
[2] , Syngap1 mutation in absence epilepsy with eyelid myoclonia: a literature overview and a case report from qatar, International Journal of Case Reports, p. 211, 2021. https://doi.org/10.28933/ijcr-2021-03-3007
[3] Y. Araki, Mouse models of syngap1-related intellectual disability, Proceedings of the National Academy of Sciences, vol. 120, no. 37, 2023. https://doi.org/10.1073/pnas.2308891120
[4] A. Jiménez-Gómez, S. Niu, F. Andujar-Perez, E. McQuade, A. Balasa, D. Husset al., Phenotypic characterization of individuals with syngap1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression, Journal of Neurodevelopmental Disorders, vol. 11, no. 1, 2019. https://doi.org/10.1186/s11689-019-9276-y
[5] N. Jeyabalan and J. Clement, Syngap1: mind the gap, Frontiers in Cellular Neuroscience, vol. 10, 2016. https://doi.org/10.3389/fncel.2016.00032
[6] A. Paul, B. Nawalpuri, D. Shah, S. Sateesh, R. Muddashetty, & J. Clement, Differential regulation of syngap1 translation by fmrp modulates eef2 mediated response on nmdar activity, Frontiers in Molecular Neuroscience, vol. 12, 2019. https://doi.org/10.3389/fnmol.2019.00097
[7] E. Ozkan, T. Creson, E. Kramár, C. Rojas, R. Seese, A. Babyanet al., Reduced cognition in syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons, Neuron, vol. 82, no. 6, p. 1317-1333, 2014. https://doi.org/10.1016/j.neuron.2014.05.015
[8] B. Libé-Philippot, R. Iwata, A. Recupero, K. Wierda, M. Ditkowska, V. Gaspariunaiteet al., Human synaptic neoteny requires species-specific balancing of srgap2-syngap1 cross-inhibition,, 2023. https://doi.org/10.1101/2023.03.01.530630
[9] H. Naveed, M. McCormack, & J. Holder, Social behavioral impairments insyngap1-related intellectual disability,, 2023. https://doi.org/10.1101/2023.03.11.23287144
[10] M. Aceti, T. Creson, T. Vaissière, C. Rojas, W. Huang, Y. Wanget al., Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly, Biological Psychiatry, vol. 77, no. 9, p. 805-815, 2015. https://doi.org/10.1016/j.biopsych.2014.08.001
