Recombinant Human MUSK Protein

Name: Recombinant Human MUSK Protein
Brand: Beta LifeScience
SKU: BL-0473SG
Availability: InStock

Collections: Other recombinant proteins, Recombinant proteins

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Product Overview

Tag	GST
Host Species	Human
Accession	NM_005592
Synonym	MGC126323, MGC126324
Background	MUSK is a receptor tyrosine kinase necessary for neuromuscular junction formation (1). MUSK gene expression is highly regulated during neuromuscular junction and it is involved in intercellular communication present on the surface of cells that are activated by specific protein ligands. MUSK members play a key role in growth and differentiation of those cell types. Agrin signals through MUSK to cluster acetylcholine receptors on the postsynaptic membrane of the neuromuscular junction. DOK7, a MUSK-interacting cytoplasmic protein, is essential for MUSK activation in cultured myotubes. MUSK also plays a critical role in the development of normal blood vessels (2).
Description	Recombinant human MUSK (519-end) was produced by baculovirus in Sf9 insect cells, fused with a GST tag at N-terminus. This protein is purified with our unique purification methods. This protein is purified with our unique purification methods.
Source	Sf9 insect cells
AA Sequence	519a.a.-end
Molecular Weight	~63 kDa
Purity	For specific purity information on a given lot, see related COA.
Endotoxin	< 1.0 EU per μg of the protein as determined by the LAL method
Bioactivity	Active
Formulation	Recombinant protein is supplied in 50mM Tris-HCl, pH 7.5, 50mM NaCl, 10mM Glutathione, 0.25mM DTT, 0.1mM EDTA, 0.1mM PMSF and 25% glycerol.
Stability	The recombinant protein is stable for up to 12 months at -70°C
Usage	For Research Use Only
Storage	Recombinant Human MUSK Protein should be stored should be stored at < -70°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

Target Details

Target Function	Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation.
Subcellular Location	Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein.
Protein Families	Protein kinase superfamily, Tyr protein kinase family
Database References	HGNC: 7525 OMIM: 208150 KEGG: hsa:4593 STRING: 9606.ENSP00000363571 UniGene: Hs.521653
Associated Diseases	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9); Fetal akinesia deformation sequence (FADS)

Gene Functions References

Gene expression profiling showed that MuSK was required for the BMP4-induced expression of a subset of genes in myoblasts, including regulator of G protein signaling 4 (Rgs4). PMID: 27601729
Classical electromyography revealed the presence of myopathic changes more frequently in MuSK myasthenia gravis compared to acetylcholine receptor myasthenia gravis PMID: 26778359
A Dutch founder mutation in MUSK causing fetal akinesia deformation sequence has been found in 14 fetuses. PMID: 25537362
To our knowledge, this is the first report showing that a mutation in MuSK is associated with Fetal akinesia deformation sequence syndrome PMID: 25612909
Immunosuppression attenuates the Th1 response in AChR-myasthenia gravis (MG) and MuSK-MG, but otherwise modulates immune responses in AChR-MG and MuSK-MG patients differentially. PMID: 25893403
HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform. PMID: 25354590
MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters PMID: 24244707
[review] Recent discovery of two novel target proteins (MuSK and LRP4) has reduced the percentage of patients without known autoantibodies, although there are still some seronegative myasthenia gravis patients. PMID: 24530233
Identification of a novel missense mutation c.114T > A; p.Asp38Glu heteroallelic to a genomic deletion encompassing exons 2-3 of MUSK that explain a limb-girdle congenital myasthenic syndrome in two affected brothers of a Turkish family. PMID: 24183479
HEp-2 M4 cells revealed a high specificity for the detection of MuSK autoantibodies from 25 patient sera. PMID: 24416182
This study provides a replication of the highly significant associations of both HLA-DRB1( *)16,-DRB1( *)14 and -DQB1( *)05 with MuSK-MG. PMID: 23993985
pathogenic IgG4 antibodies to MuSK bind to a structural epitope in the first Ig-like domain of MuSK, prevent binding between MuSK and Lrp4, and inhibit Agrin-stimulated MuSK phosphorylation. PMID: 24297891
We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ. PMID: 23553736
MUSK is associated with a small but variable subgroup of distinct phenotypes in Thai patients with myasthenia gravis who have MUSK autoantibodies. PMID: 23352351
MUSK antibodies may induce phenotypically disruptive actions at the neuromuscular junction by binding acetylcholinesterase (AChE) via its collagen tail, producing a reduction in synaptic AChE activity. PMID: 23720161
MuSK is activated in a complex spatio-temporal manner to cluster acetylcholine receptors on the postsynaptic (muscle) side of the synapse and to induce differentiation of the nerve terminal on the presynaptic side. (Review) PMID: 23467009
We report a novel mutation in MUSK leading to a Congenital myasthenic syndromes PMID: 23326516
MuSK kinase activity is necessary for substrate-dependent acetylcholine receptor cluster formation PMID: 22210232
Two family cases are reported that transmit MuSK antibody myasthenia gravis to the offspring by different maternal mechanisms. PMID: 21386774
The ability of immobilized MuSK extracellular domain to remove practically all anti-MuSK antibodies from patients' sera should prove invaluable for development of an antigen-specific therapeutic approach for MuSK myasthenia gravis. PMID: 21993075
Lrp4 is a cis-acting ligand for MuSK PMID: 21969364
The importance of MuSK as a synapse organiser is highlighted by cases of autoimmune myasthenia gravis in which MuSK autoantibodies can deplete MuSK from the postsynaptic membrane, leading to complete disassembly of the adult neuromuscular junction. PMID: 20974278
these findings demonstrate that missense mutations in MUSK can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK mutants to interact with Dok-7. PMID: 20371544
Anti-MuSK protein positive patients have more predominantly bulbar involvement and had more severe myasthenia gravis. PMID: 19327804
analysis of regulation of MuSK expression by a novel signaling pathway PMID: 12885777
Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability. PMID: 15496425
Thus, an agrin/MuSK complex may form part of a motor neuron stop signal involved in "reverse signaling" to the motor neuron. PMID: 15691710
A low-molecular weight isoform of muscle-specific receptor tyrosine kinase in human sperm localized in the flagellar mid-piece region. PMID: 16487930
Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
Altogether, these results indicate that anti-MuSK Abs could be pathogenic by contributing to the muscle atrophy in MuSK+ MG patients. PMID: 16857268
muscle-specific receptor tyrosine kinase activation and binding to dystroglycan are regulated by alternative mRNA splicing of agrin PMID: 17012237
Testing of human myotubes for the presence and activation of MuSK by exposing them to laminin. PMID: 17192614
We describe a case of epileptic seizures secondary to myasthenia gravis caused by autoantibodies to the MUSK receptor. These autoantibodies affected the brain as well. PMID: 17661994
the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
We describe a transient neonatal myasthenic syndrome with anti-musk antibodies. PMID: 18378885
IgG from anti-MuSK-positive patients can cause myasthenia gravis when injected into mice. PMID: 18384168
single-fiber electromyography of distal limb muscles tends to have a lower yield of abnormality in MuSK-antibody-positive patients than either acetylcholine receptor-antibody-positive or seronegative myasthenia gravis PMID: 18567855
Thymectomy is mostly considered scarcely effective; however, at present, no firm conclusions can be drawn on its role in the treatment of this form of myasthenia gravis PMID: 18567856
Anti-MuSK antibodies influence the activity of MuSK molecules without reducing their number, thereby diminishing the size of the endplate and affecting the functioning of acetylcholine receptors. PMID: 19745065
This study report a family known so far with a congenital myasthenic syndromes due to a mutation in the MUSK gene. PMID: 19949040

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