spectrin repeat containing nuclear envelope protein 1
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). The protein is thought to attach the membrane of Purkinje cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. It is not clear what role this attachment plays in Purkinje cell function.
Normal function
Der SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). The protein is thought to attach the membrane of Purkinje cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. It is not clear what role this attachment plays in Purkinje cell function.
Conditions referring to this gene or chromosome
Other names
ARCA1
MYNE1
myocyte nuclear envelope protein 1
Nesp1
nesprin-1
nuclear envelope spectrin repeat protein 1
spectrin repeat containing, nuclear envelope 1
SYNE1_HUMAN
Related patient information and medicines
Patient information leaflet
Katarakte
Cataracts usually develop slowly over years, and treatment is only needed when they start to significantly affect your vision or daily activ... Can you prevent cataracts. You can’t always prevent cataracts, as they’re often linked to ageing. However, protecting your eyes from UV light, eating a healthy diet rich in antioxidants, not smoking, and.
Patient information leaflet
Porphyrie
Der porphyrias are a group of disorders in which there is a problem with the production of haem (also spelled heme) within the body. Haem is used to make haemoglobin in red blood cells. There are seven different types of porphyria and in most cases they run in families (are inherited). Haem is mainly made in the liver and in bone marrow. Haem is.
Patient information leaflet
Gesunde Ernährung
You can reduce your intake of trans fats by avoiding or reducing the amount of fried foods, high-fat snacks and ... A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your intake of saturated Fette lowers your risk of developing coronary heart disease, although there was no evidence that it reduces.
%20and%20Matcha%20together%3F/og.png)
Patient information leaflet
Kann ich Certican (Everolimus) und Matcha zusammen einnehmen?
Drinking matcha tea while taking Certican (everolimus) may increase the levels of the medication in your bloodstream. This could lead to an increased risk of side effects, such as mouth ulcers, infections, or kidney problems. Why this happens Certican is broken down in the body by a specific... Matcha, which is a concentrated form of green tea,.
Patient information leaflet
Genetische Tests
Genetische Tests 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. They are all designed to identify a particular gene that may cause a genetic disorder. We all have 46 chromosomes in our cells. Chromosomes are made from.
Patient information leaflet
Impfung gegen Grippe
Getting the flu vaccine (also called the flu jab or flu shot) is a safe and effective way to protect against becoming seriously ill with flu. What is the flu jab for. Some people can become seriously ill with flu, needing hospital treatment, and can sometimes be life-threatening. . Getting the flu jab reduces the risk of catching flu, and also.
Weiterführende Lektüre und Referenzen
- spectrin repeat containing nuclear envelope protein 1; MedlinePlus, National Library of Medicine.
- Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1379/
- Dupre N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1):93-8. doi: 10.1002/ana.21143.
- Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. doi: 10.1038/ng1927. Epub 2006 Dec 10.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Oct 2010 | 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.