靶标:
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:
docking protein 7(DOK7) Homo sapiens The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009],