docking protein 7
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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
Altri nomi
C4orf25
CMS1B
Dok-7
DOK7_HUMAN
downstream of tyrosine kinase 7
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Ulteriori letture e riferimenti
- 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.
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