synaptic Ras GTPase activating protein 1
Última actualización 2 de mayo de 2023
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El SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the "wiring" in the circuitry of the brain. Synapses are able to change and adapt over time, rewiring brain circuits, which is critical for learning and memory. SynGAP helps regulate synapse adaptations and promotes proper brain wiring. The protein's function is particularly important during a critical period of early brain development that affects future cognitive ability.
Normal function
El SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the "wiring" in the circuitry of the brain. Synapses are able to change and adapt over time, rewiring brain circuits, which is critical for learning and memory. SynGAP helps regulate synapse adaptations and promotes proper brain wiring. The protein's function is particularly important during a critical period of early brain development that affects future cognitive ability.
Conditions referring to this gene or chromosome
Otros nombres
KIAA1938
MRD5
neuronal RasGAP
Ras GTPase-activating protein SynGAP
ras/Rap GTPase-activating protein SynGAP
RASA5
synaptic Ras GTPase activating protein 1 homolog
synaptic Ras GTPase activating protein, 135kDa
synaptic Ras GTPase-activating protein 1
SYNGAP
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Lecturas adicionales y referencias
- synaptic Ras GTPase activating protein 1; MedlinePlus, National Library of Medicine.
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- Clement JP, Ozkan ED, Aceti M, Miller CA, Rumbaugh G. SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity. J Neurosci. 2013 Jun 19;33(25):10447-52. doi: 10.1523/JNEUROSCI.0765-13.2013.
- Kalkman HO. Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders. Neurosci Biobehav Rev. 2012 Nov;36(10):2206-13. doi: 10.1016/j.neubiorev.2012.07.008. Epub 2012 Aug 4.
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- Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15.
- Venkataraman GR, O'Connell C, Egawa F, Kashef-Haghighi D, Wall DP. DE NOVO MUTATIONS IN AUTISM IMPLICATE THE SYNAPTIC ELIMINATION NETWORK. Pac Symp Biocomput. 2017;22:521-532. doi: 10.1142/9789813207813_0048.
- Wang CC, Held RG, Hall BJ. SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks. PLoS One. 2013 Dec 31;8(12):e83941. doi: 10.1371/journal.pone.0083941. eCollection 2013.
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