syntaxin binding protein 1
עודכן לאחרונה 2 Dec 2020
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
The STXBP1 gene provides instructions for making syntaxin-binding protein 1. In nerve cells (neurons), this protein helps regulate the release of chemical messengers called neurotransmitters from compartments known as synaptic vesicles. The release of neurotransmitters relays signals between neurons and is critical for normal brain function.
Normal function
The STXBP1 gene provides instructions for making syntaxin-binding protein 1. In nerve cells (neurons), this protein helps regulate the release of chemical messengers called neurotransmitters from compartments known as synaptic vesicles. The release of neurotransmitters relays signals between neurons and is critical for normal brain function.
To release its neurotransmitters, a synaptic vesicle must join (fuse) with the outer membrane of the neuron. The syntaxin-binding protein 1 regulates the formation of a group (complex) of proteins that allows vesicle fusion.
Syntaxin-binding protein 1 may also have a role in the positioning and growth of neurons during brain development. Proper localization of neurons is important for normal brain formation and function.
Conditions referring to this gene or chromosome
Other names
hUNC18
MUNC18-1
N-Sec1
neuronal SEC1
NSEC1
RBSEC1
unc-18A
UNC18
unc18-1
Related patient information and medicines
Patient information leaflet
מחלת וילסון
Wilson's disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up... If Wilson's disease is suspected, it can be diagnosed by various.
Patient information leaflet
מערכת החיסון
This leaflet gives a brief overview of the מערכת חיסונית 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 ... What are B cells. B cells produce antibodies..
Patient information leaflet
כולנגיטיס ביליארי ראשוני
Primary biliary cholangitis (PBC) is a condition that slowly damages the bile ducts in your liver, leading to liver damage and, sometimes, liver scarring (cirrhosis). Primary biliary cholangitis (PBC) is an auto-immune condition in which your immune system gradually destroys the tiny tubes (bile ducts) which take bile from the liver to the gut.
Patient information leaflet
תסמונת נפרוטית
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of חלבון 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.
Patient information leaflet
פמפיגוס וולגריס
Pemphigus vulgar. It מטופל? a serious disease that needs treatment. If it is not treated, it is often fatal. These different conditions vary greatly in their seriousness, outlook (prognosis) and treatment. פמפיגוס וולגריס מטופל? the most common form of pemphigus and one of the most serious blistering skin conditions. This leaflet is only about.
Patient information leaflet
האם אני יכול לקחת אטורבסטטין וביוטין יחד?
יש no known interaction between atorvastatin and biotin. It is generally considered safe to take these two together. Why this happens Atorvastatin is processed by specific liver enzymes (CYP3A4), while biotin (Vitamin B7) is a water-soluble vitamin that uses ... Raw egg whites Eating large amounts of raw egg whites over a long period can.
קריאה נוספת והפניות
- syntaxin binding protein 1; MedlinePlus, National Library of Medicine.
- Abramov D, Guiberson NGL, Burre J. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies. J Neurochem. 2021 Apr;157(2):165-178. doi: 10.1111/jnc.15120. Epub 2020 Aug 4.
- Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.
- Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A. Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):661-5. doi: 10.1016/j.ejpn.2016.04.005. Epub 2016 Apr 28.
- Hamada N, Iwamoto I, Tabata H, Nagata KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun. 2017 Nov 30;5(1):92. doi: 10.1186/s40478-017-0498-5.
- Patzke C, Han Y, Covy J, Yi F, Maxeiner S, Wernig M, Sudhof TC. Analysis of conditional heterozygous STXBP1 mutations in human neurons. J Clin Invest. 2015 Sep;125(9):3560-71. doi: 10.1172/JCI78612. Epub 2015 Aug 17.
- Rizo J, Rosenmund C. Synaptic vesicle fusion. Nat Struct Mol Biol. 2008 Jul;15(7):665-74. doi: 10.1038/nsmb.1450.
- Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destree A, Dilena R, Erasmus CE, Fannemel M, Fjaer R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Moller RS, Weckhuysen S. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.
- Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016 Mar;38(3):280-4. doi: 10.1016/j.braindev.2015.09.004. Epub 2015 Sep 16.
- Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016 Apr;57(4):e81-6. doi: 10.1111/epi.13338. Epub 2016 Feb 25.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.