receptor associated protein of the synapse
Zuletzt aktualisiert 13 Feb 2026
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der RAPSN gene provides instructions for making a protein called rapsyn that attaches (binds) to the different parts (subunits) of a protein found in the muscle cell membrane called acetylcholine receptor (AChR). This binding helps keep the receptor subunits together and anchors the AChR protein in the muscle cell membrane. The AChR protein plays a critical role in the normal function of the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement.
Normal function
Der RAPSN gene provides instructions for making a protein called rapsyn that attaches (binds) to the different parts (subunits) of a protein found in the muscle cell membrane called acetylcholine receptor (AChR). This binding helps keep the receptor subunits together and anchors the AChR protein in the muscle cell membrane. The AChR protein plays a critical role in the normal function of the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement.
Conditions referring to this gene or chromosome
Other names
RAPSN_HUMAN
RAPSYN
receptor-associated protein of the synapse
RING finger protein 205
RNF205
Related patient information and medicines
Patient information leaflet
Kehlkopfkrebs
Most cases of cancer of the voice box (larynx) occur in people aged over 60. The common early symptom is a persistent hoarse voice. Many cases are diagnosed at an early stage when 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. Throat.
Patient information leaflet
Ursachen von Gedächtnisverlust und Demenz
However, it i... Lewy body dementia/dementia with Lewy bodies (DLB) This causes 10 to 15 in every 100 cases of dementia. Lewy bodies sind tiny abnormal protein deposits that develop in nerve cells in the Gehirn of people with this condition. It is not clear why the Lewy bodies develop but they interfere with the normal working of the brain. If Lewy.
Patient information leaflet
Brustkrebs
. Most cases occur in women over the age of 50 but breast cancer can occur in younger women. However, treatments are improving all the time and they can often slow the progress of the cancer. Breast cancer is one of the most common cancers. Most develop in women over the age of 50 but younger women are sometimes affected. Breast cancer develops.
Patient information leaflet
Fibromyalgie
Fibromyalgia causes The cause of fibromyalgia is not known, but the most widely accepted theory is that fibromyalgia is a central pain problem, caused by excessive levels of pain stimulator... Research has shown that people with Fibromyalgie haben subtle changes in chemicals genannt neurotransmitters, which are found in the Gehirn und nervous system..
Patient information leaflet
Genetische Tests
Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. Genes are short sections of DNA and each chromosome contains hundreds to thousands of genes. Genes contain the information our bodies need to make.
Patient information leaflet
Kann ich Candesartan und Kollagen zusammen einnehmen?
There are no known significant interactions between candesartan and collagen supplements. It is generally considered safe to take these together. Why this happens Candesartan is a blood pressure medication (an angiotensin II receptor blocker) that works on the hormonal system controlling blood vessels. Collagen is a protein supplement used for.
Weiterführende Lektüre und Referenzen
- receptor associated protein of the synapse; MedlinePlus, National Library of Medicine.
- Barisic N, Chaouch A, Muller JS, Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17.
- Beeson D, Webster R, Cossins J, Lashley D, Spearman H, Maxwell S, Slater CR, Newsom-Davis J, Palace J, Vincent A. Congenital myasthenic syndromes and the formation of the neuromuscular junction. Ann N Y Acad Sci. 2008;1132:99-103. doi: 10.1196/annals.1405.049.
- Engel AG. Congenital myasthenic syndromes in 2012. Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7.
- Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscul Disord. 2012 Feb;22(2):99-111. doi: 10.1016/j.nmd.2011.10.009. Epub 2011 Nov 21.
- Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15.
- Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
13 Feb 2026 | Neueste Version
1 Nov 2011 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.