基因名:
Dok7
产品别名:
A930013K19Rik; AW049091; Dok-7; EF-12; Oit5; Dok7; docking protein 7; docking protein 7; protein Dok-7; downstream of tyrosine kinase 7; oncoprotein induced transcript 5; 停靠蛋白7(DOK7); 接头蛋白DOK7;
背景信息:
The downstream of kinase family (Dok1-7) are members of a class of “docking” proteins that include the tyrosine kinase substrates IRS-1 and Cas, which contain multiple tyrosine residues and putative SH2 binding sites. Based on their similarities, the Dok family of proteins can be divided into three subgroups: Dok-1/2/3, Dok-4/5/6 and Dok-7. Through its interaction with muscle-specific receptor kinase (MuSK), Dok-7 is crucial for neuromuscular synaptogenesis and for MuSK activation. Mice lacking Dok-7 do not form neuromuscular synapses nor acetylcholine receptor clusters. Mutations in the Dok-7 gene can cause congenital myasthenic syndromes (CMA) — recessively inherited disorders characterized by muscle weakness.