docking protein 7
آخر تحديث 13 Feb 2026
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The DOK7 gene provides instructions for making a protein that helps form connections between nerve cells and muscle cells at the neuromuscular junction. The neuromuscular junction is the area between nerve cells and muscle cells where signals are passed on to trigger muscle movement.
Normal function
The DOK7 gene provides instructions for making a protein that helps form connections between nerve cells and muscle cells at the neuromuscular junction. The neuromuscular junction is the area between nerve cells and muscle cells where signals are passed on to trigger muscle movement.
The Dok-7 protein participates in turning on (activating) a protein called MuSK that helps organize the various proteins that are important for developing and maintaining the neuromuscular junction. In particular, MuSK is involved in gathering a protein called the acetylcholine receptor (AChR) on the surface of the muscle cells at the neuromuscular junction. The AChR protein is critical for signaling between nerve and muscle cells.
Conditions referring to this gene or chromosome
Other names
C4orf25
CMS1B
Dok-7
DOK7_HUMAN
downstream of tyrosine kinase 7
Related patient information and medicines
Patient information leaflet
اضطرابات تخزين الجليكوجين
اضطرابات تخزين الجليكوجين are a group of inherited diseases. They result from a proble... Glycogen storage disorders are a group of inherited diseases that result from a lack of, or abnormal functioning of, one of the proteins (enzymes) involved in the conversion of glucose to glycogen or the breakdown of glycogen back into glucose. Glycogen.
Patient information leaflet
سوء الامتصاص المعوي
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged سوء امتصاص الأمعاء may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
Patient information leaflet
بيلة بروتينية
البروتينات يكون molecules that يكون found in almost every part of the body, including in the blood. The kidneys normally have a filter which stops protein from entering the urine, except in very tiny amounts; however, kidney problems can cause higher levels of protein to be found in the urine. What is proteinuria. Proteinuria means that there is an.
Patient information leaflet
متلازمة الكلوية
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts من protein 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. Treatment and.
Patient information leaflet
التغذية الصحية
As well as بصحة جيدة eating, regular physical exercise is also very important for health and to avoid or reduce obesity. Protein foods. On the other hand, restricting the intake of meat can increase the risk of iron-deficie... For this reason, the UK Government's Scientific Advisory Committee on التغذية (SACN) recommend that your intake of red and.
Patient information leaflet
تسمم الحمل
Pre-eclampsia involves ارتفاع ضغط الدم و protein in the urine. It can have no symptoms but some women may have headache, blurred vision, tummy pain and swollen ankles. It can be a serious... Pre-eclampsia meaning Pre-eclampsia is a condition where you have high blood pressure (hypertension) in pregnancy and lose too much protein from your.
قراءة إضافية ومراجع
- docking protein 7; MedlinePlus, National Library of Medicine.
- Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. 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/NBK1168/
- 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, Shen XM, Selcen D, Sine SM. What have we learned from the congenital myasthenic syndromes. J Mol Neurosci. 2010 Jan;40(1-2):143-53. doi: 10.1007/s12031-009-9229-0. Epub 2009 Aug 18.
- 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.
- Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aarimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmuller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17.
- Radhakrishnan P, Shukla A, Girisha KM, Nayak SS. Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. Am J Med Genet A. 2020 Apr;182(4):804-807. doi: 10.1002/ajmg.a.61473. Epub 2019 Dec 27.
- Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol. 2008 Jul;64(1):71-87. doi: 10.1002/ana.21408.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
13 Feb 2026 | أحدث إصدار
1 فبراير 2026 | نُشر في الأصل
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