Catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. ,Disease:Defects in MUSK is a cause of autosomal recessive congenital myasthenic syndrome (CMS) [MIM:608931]. Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic , synaptic , or postsynaptic proteins. MUSK mutations lead to decreased agrin-dependent AChR aggregation , a critical step in the formation of the neuromuscular junction. ,Function:Receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization. ,online information:MuSK entry ,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. ,similarity:Contains 1 FZ (frizzled) domain. ,similarity:Contains 1 protein kinase domain. ,similarity:Contains 3 Ig-like C2-type (immunoglobulin-like) domains. ,subunit:Interacts with DOK7 , which probably regulates its activity. ,
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