calcium/calmodulin dependent serine protein kinase
עודכן לאחרונה 18 Aug 2020
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons. Research suggests that the CASK protein may also interact with the protein produced from another gene, FRMD7, to promote development of the nerves that control eye movement (the oculomotor neural network).
Normal function
ה CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons. Research suggests that the CASK protein may also interact with the protein produced from another gene, FRMD7, to promote development of the nerves that control eye movement (the oculomotor neural network).
Conditions referring to this gene or chromosome
Other names
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAMGUK
CMG
CSKP_HUMAN
hCASK
LIN2
protein lin-2 homolog
TNRC8
Related patient information and medicines
Patient information leaflet
בדיקות תפקודי כבד
בדיקות תפקודי כבד are a type of blood test. A small amount of blood is taken from a vein in your arm. Liver function tests measure a series of chemicals which relate to the way ... What do unusually low levels on my liver function tests mean. Note that in most cases (except albumin and calcium) it is a raised (rather than a lowered) level in.
Patient information leaflet
דושן ניוון שרירים
The name Duchenne comes from the doctor who first studied this condition. Medications called ACE... Gene therapy The National Institute for Health and Care Excellence (NICE) approved the use of ataluren in 2023. Although this has not been in use for long, it appears that this slows the progress of Duchenne muscular dystrophy and also delays the.
Patient information leaflet
תזונה בריאה
Minerals and vitamins are other nutrients that are also important in your diet to help your body stay healthy. Milk and dairy foods Milk and other dairy foods such as cheese and yoghurt are important in your diet, as they provide סידן which is needed for healthy teeth and bones. They are also a source of protein and can provide other vitamins.
Patient information leaflet
מחלת כליות כרונית
In most of these cases, the CKD does not progress beyond the moderate stage unless other problems of the kidney, such as diabetic kidney disease, develop. These conditions account for three in four cases of chronic kidney disease in adults. Other less common conditions that can cause chronic kidney disease include: Certain medications , including.
/og.png)
Patient information leaflet
דיאטת פלאוליתית (דיאטת פליאו)
Following a Paleolithic diet means eating unprocessed, fresh foods that reflect the diet of our hunter-gatherer ancestors from the Paleolithic era. Recent research suggested that risk factors for type 2 diabetes and cardiovascular disease reduced on a Paleolithic diet, but the authors felt more work wa... Paleo Diet food list There are seven.
Patient information leaflet
דיאטה ים תיכונית
Do not add salt to your food at th... Snack on fruit, dried fruit and unsalted nuts rather than cakes, crisps and biscuits. Drink (red) wine during meals but. This guidance is partly based on research into the Mediterranean Diet. Other governments recommend higher levels of fruit and vegetables, such as seven or even ten portions daily. A wide.
קריאה נוספת והפניות
- calcium/calmodulin dependent serine protein kinase; MedlinePlus, National Library of Medicine.
- Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.
- Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23.
- Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047-0. Epub 2011 Jul 7.
- Hsueh YP. Calcium/calmodulin-dependent serine protein kinase and mental retardation. Ann Neurol. 2009 Oct;66(4):438-43. doi: 10.1002/ana.21755.
- Moog U, Kutsche K, Kortum F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schluter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27.
- Moog U, Kutsche K. CASK Disorders. 2013 Nov 26 [updated 2020 May 21]. 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/NBK169825/
- Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.
- Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12.
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.