synaptic Ras GTPase activating protein 1
آخر تحديث 2 مايو 2023
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
ال 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
ال 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
Other names
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
Related patient information and medicines
Patient information leaflet
الجهاز المناعي
This leaflet gives a brief overview of الجهاز المناعي and how it works. A person with a weak immune system might have difficulty fighting off infections. In autoimmune diseases the body is unable to tell what is its own and what is foreign, so it attacks itself. Autoimmune diseases can attack any part of the body - eg, type 1 diabetes.
Patient information leaflet
اختبارات وظائف الكبد
اختبارات وظائف الكبد are a set of blood tests commonly done to check on the health of your liver. Changes in liver function tests give a clue as to whether your liver is under strain, inflamed, infected or diseased, and how badly. The pattern of the liver function tests can give a clue to the cause and can allow early detection of unsuspected.
Patient information leaflet
التهاب المفاصل الروماتويدي
Rheumatoid arthritis causes inflammation, pain, and swelling of joints. Persistent inflammation over time can damage affected joints. The severity can vary from mild to severe. Treatments include disease-modifying medicines to suppress... What is rheumatoid arthritis. Arthritis means inflammation of joints. Rheumatoid arthritis (RA) is a fairly.
Patient information leaflet
التهاب الأوعية الدموية الحبيبي مع التهاب الأوعية
In the condition called granulomatosis with polyangiitis, the walls of small and medium-sized blood vessels become inflamed. It mainly affects adults. Treatment with medicines to... What is granulomatosis with polyangiitis and who develops it. التهاب الأوعية الدموية الحبيبي مع التهاب الأوعية (GPA) هو one of a group of conditions that causes inflammation of the.
Patient information leaflet
مرض بوين
However, there is a small risk that, over time, it can develop into a more advanced form of skin cancer, which does cause problems. Is Bowen's disease skin cancer. Bowen's disease is a very early form of skin cancer. In Bowen's disease, skin cancer cells grow in the outer layer of the skin, but do not grow (or 'invade') deeper into the skin..
Patient information leaflet
متلازمة الكلوية
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. Nephrotic syndrome.
قراءة إضافية ومراجع
- synaptic Ras GTPase activating protein 1; MedlinePlus, National Library of Medicine.
- Aceti M, Creson TK, Vaissiere T, Rojas C, Huang WC, Wang YX, Petralia RS, Page DT, Miller CA, Rumbaugh G. Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly. Biol Psychiatry. 2015 May 1;77(9):805-15. doi: 10.1016/j.biopsych.2014.08.001. Epub 2014 Aug 13.
- Clement JP, Aceti M, Creson TK, Ozkan ED, Shi Y, Reish NJ, Almonte AG, Miller BH, Wiltgen BJ, Miller CA, Xu X, Rumbaugh G. Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. Cell. 2012 Nov 9;151(4):709-723. doi: 10.1016/j.cell.2012.08.045.
- 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.
- Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybala M, Yis U, Caglayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hortnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Heron D, Kluger G, Depienne C. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17.
- O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun. 2014 Nov 24;5:5595. doi: 10.1038/ncomms6595.
- Ozkan ED, Creson TK, Kramar EA, Rojas C, Seese RR, Babyan AH, Shi Y, Lucero R, Xu X, Noebels JL, Miller CA, Lynch G, Rumbaugh G. Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons. Neuron. 2014 Jun 18;82(6):1317-33. doi: 10.1016/j.neuron.2014.05.015.
- 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.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
2 مايو 2023 | أحدث إصدار
1 Jun 2017 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.