• Target：
• MuSK

• Gene Name：
• MUSK

• Protein Name：
• Muscle, skeletal receptor tyrosine-protein kinase

• Human Gene Id：
• 4593

• Human Swiss Prot No：
• O15146

• Mouse Swiss Prot No：
• Q61006

• Immunogen：
• Purified recombinant extracellular fragment of human MuSK (aa24-209) fused with hIgGFc tag expressed in HEK293 cell line.

• Specificity：
• MuSK Monoclonal Antibody detects endogenous levels of MuSK protein.

• Formulation：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• Source：
• Monoclonal, Mouse

• Dilution：
• IHC 1:200 - 1:1000. IF 1:200 - 1:1000. ELISA: 1:10000. Not yet tested in other applications.

• Purification：
• Affinity purification

• Storage Stability：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• Other Name：
• MUSK;Muscle; skeletal receptor tyrosine-protein kinase;Muscle-specific tyrosine-protein kinase receptor;MuSK;Muscle-specific kinase receptor

• References：
• 1. J Neuroimmunol. 2006 Aug;177(1-2):119-31.
  2. Ann N Y Acad Sci. 2008;1132:76-83.

• Background：
• This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009],

• Function：
• 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.,s

• Subcellular Location：
• 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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