功能： 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.,
相關產品： RS0001,RS0002,YM3028,YM3331
細胞定位： Cell junction, synapse, postsynaptic cell membrane ; Single-pass type I membrane protein . Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction. .
功能： 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.,
相關產品： RS0001,RS0002,YM3028,YM3331
細胞定位： Cell junction, synapse, postsynaptic cell membrane ; Single-pass type I membrane protein . Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction. .
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