SH3 and multiple ankyrin repeat domains 3
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह SHANK3 gene provides instructions for making a protein that is found in many of the body's tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs. Within synapses, the SHANK3 protein acts as a scaffold that supports the connections between neurons, ensuring that the signals sent by one neuron are received by another.
Normal function
यह SHANK3 gene provides instructions for making a protein that is found in many of the body's tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs. Within synapses, the SHANK3 protein acts as a scaffold that supports the connections between neurons, ensuring that the signals sent by one neuron are received by another.
The SHANK3 protein is also involved in the formation and maturation of dendritic spines. Dendrites are specialized extensions from neurons that are essential for the transmission of nerve impulses. Dendritic spines are small outgrowths from dendrites that further help transmit nerve impulses and increase communication between neurons.
Conditions referring to this gene or chromosome
Other names
proline-rich synapse-associated protein 2
ProSAP2
SPANK-2
Related patient information and medicines
Patient information leaflet
अपनी दवाओं की परस्पर क्रियाओं की जाँच करें
Use this medicine and drug interaction checker को see whether आपका medicines, supplements, vitamins, foods, or certain health conditions may interact with each other. It can help you understand potential risks, avoid unwanted side effects, and decide when it’s important to speak to a pharmacist, GP, or other healthcare professional. The tool is.
Patient information leaflet
क्या मैं कार्बोसिस्टीन और ओमेगा-3 को एक साथ ले सकता हूँ?
There are no known interactions between carbocisteine and omega-3 supplements. Omega-3 fatty acids are nutrients used by the body for various functions, including heart and brain health. हमारा दवाओं की परस्पर क्रिया जाँचकर्ता helps you check whether आपका prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search.
Patient information leaflet
सीटी स्कैन
Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. What is a CT scan. It can give quite clear pictures of the inside of your body. In particular, it can give good pictures of soft.
Patient information leaflet
आंत्र कैंसर
कोलन कैंसर और रेक्टल कैंसर (also called colorectal cancer) are common in the UK. The colon and rectum are parts of your bowel. If bowel cancer is diagnosed at an early stage, there is a good chance of a cure. In general, the more advanced the cancer (the more it has grown and spread), the less chance that treatment will be curative. Bowel.
Patient information leaflet
अक्षीय स्पोंडिलोआर्थराइटिस
अक्षीय स्पोंडिलोआर्थराइटिस (also known as axSpA या axial SpA) is a painful, chronic arthritis that mainly affects the joints of the spine, and also the joints connecting each side of the base of the spine with the pelvis (sacroiliac joints). It can also affect other joints in the body, as well as tendons and ligaments. It is divided into: 1).
Patient information leaflet
स्जोग्रेन सिंड्रोम
स्जोग्रेन सिंड्रोम है an autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
अधिक पठन और संदर्भ
- SH3 and multiple ankyrin repeat domains 3; MedlinePlus, National Library of Medicine.
- Boeckers TM, Bockmann J, Kreutz MR, Gundelfinger ED. ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. J Neurochem. 2002 Jun;81(5):903-10. doi: 10.1046/j.1471-4159.2002.00931.x.
- Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet. 2006 Oct;43(10):822-8. doi: 10.1136/jmg.2005.038604. Epub 2005 Nov 11.
- Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Roge B, Heron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub 2006 Dec 17.
- Gauthier J, Spiegelman D, Piton A, Lafreniere RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822.
- Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemiere N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.
- Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet. 2007 Dec;81(6):1289-97. doi: 10.1086/522590. Epub 2007 Oct 16.
- Monteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017 Mar;18(3):147-157. doi: 10.1038/nrn.2016.183. Epub 2017 Feb 9.
- Sala C, Vicidomini C, Bigi I, Mossa A, Verpelli C. Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders. J Neurochem. 2015 Dec;135(5):849-58. doi: 10.1111/jnc.13232. Epub 2015 Sep 3.
- Uchino S, Waga C. SHANK3 as an autism spectrum disorder-associated gene. Brain Dev. 2013 Feb;35(2):106-10. doi: 10.1016/j.braindev.2012.05.013. Epub 2012 Jun 29.
- Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet. 2003 Aug;40(8):575-84. doi: 10.1136/jmg.40.8.575.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.