SWI/SNF related BAF chromatin remodeling complex subunit B1
עודכן לאחרונה 1 Oct 2024
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Normal function
ה SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. Through these processes, the SMARCB1 protein and other SWI/SNF subunits are thought to act as tumour suppressors, which keep cells from growing and dividing too rapidly or in an uncontrolled way.
The role of the SMARCB1 protein within the SWI/SNF complex is not fully understood.
Conditions referring to this gene or chromosome
Other names
BAF47
BRG1-associated factor 47
INI1
integrase interactor 1 protein
SNF5
SNF5 homolog
SNF5_HUMAN
SNF5L1
Related patient information and medicines
Patient information leaflet
האם אני יכול לקחת קומפלקס ויטמין B וויטמין D יחד?
There are no known harmful interactions between Vi... In fact, these vitamins are often taken together to support overall health, as they work in different ways within the body. Why this happens Vitamin B complex (which includes B1, B2, B3, B5, B6, B7, B9, and B12) and Vitamin D use different pathways for absorption and metabolism. Vitamin B.
Patient information leaflet
גמילה מאלכוהול וניקוי רעלים מאלכוהול
Even after the period of 'detox' you may still have some craving for alcohol. So you will still need willpower and coping strategies for when you feel tempted to drink. Vitamin supplements You are likely to be prescribed vitamins, particularly vitamin B1 (thiamine), if you are alcohol-dependent - especially during 'detox'. This is because many.
Patient information leaflet
פודיאטריה
... The chemical destroys the nail bed and usually prevents recurrence of the ingrowing toenail. A PNA is an alternative to removing the entire nail (total nail avulsion). Swift verruca treatment This is licensed for the טיפול of verrucas and warts. The microwave energy is delivered through a special probe applied to the skin to treat the.
Patient information leaflet
האם אני יכול לקחת ג'ינג'ר וקומפלקס ויטמין B יחד?
When combined with caffeine, which is a stimulant, this may lead to a... Using other medicines Taking multiple medicines. Our בודק אינטראקציות בין תרופות helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do.
Patient information leaflet
האם אני יכול לקחת רמיפריל וקומפלקס ויטמין B יחד?
There is no known significant interaction between רמיפריל and a standard Vitamin B complex supplement. It is generally considered safe to take these together. Why this happens Ramipril is an ACE inhibitor used for blood pressure, while Vitamin B complex contains water-soluble vitamins (such as B1, B2, B6, B12, and folic acid). These substances.
Patient information leaflet
האם אני יכול לקחת כורכום עם פלפל שחור וקומפלקס ויטמין B יחד?
There are no known harmful interactions between turmeric (with black pepper) and Vitamin B complex. In fact, black pepper may slightly improve the absorption of certain B vitamins. Why this happens Piperine (the active compound in black pepper) is known to enhance the bioavailability of many nutrients by slowing down their breakdown in the liver.
קריאה נוספת והפניות
- SWI/SNF related BAF chromatin remodeling complex subunit B1; MedlinePlus, National Library of Medicine.
- Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011 Jan;56(1):7-15. doi: 10.1002/pbc.22831.
- Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6.
- Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008 Jun;45(6):332-9. doi: 10.1136/jmg.2007.056499. Epub 2008 Feb 19.
- Hulsebos TJ, Kenter S, Verhagen WI, Baas F, Flucke U, Wesseling P. Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. Acta Neuropathol. 2014 Sep;128(3):439-48. doi: 10.1007/s00401-014-1281-3. Epub 2014 Apr 17.
- Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16.
- Kim KH, Roberts CW. Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. Cancer Genet. 2014 Sep;207(9):365-72. doi: 10.1016/j.cancergen.2014.04.004. Epub 2014 Apr 13.
- Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25.
- Sredni ST, Tomita T. Rhabdoid tumor predisposition syndrome. Pediatr Dev Pathol. 2015 Jan-Feb;18(1):49-58. doi: 10.2350/14-07-1531-MISC.1. Epub 2014 Dec 10.
- Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
- Wieczorek D, Bogershausen N, Beleggia F, Steiner-Haldenstatt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmuller J, Alanay Y, Kayserili H, Klein-Hitpass L, Bohringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillen-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PO, Lopez-Gonzalez V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nurnberg P, Rahmann S, Vermeesch J, Ludecke HJ, Zeschnigk M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.
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.