Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Activity

Measured by ADP-Glo Kinase detection kit. The EC50 of MUSK is 2.65-3.58 μg/ml.

Target Names

MUSK

Uniprot No.

O15146

Research Area

Signal Transduction

Alternative Names

MUSK; Muscle, skeletal receptor tyrosine-protein kinase; Muscle-specific tyrosine-protein kinase receptor; MuSK; Muscle-specific kinase receptor

Species

Homo sapiens (Human)

Source

in vitro E.coli expression system

Expression Region

24-495aa

Target Protein Sequence

LPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEEESEPEQDTKVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLAFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDI

Mol. Weight

56.5kDa

Protein Length

Extracellular Domain

Tag Info

N-terminal 6xHis-tagged

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

Tris-based buffer,50% glycerol

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Description

Recombinant Human Muscle, skeletal receptor tyrosine-protein kinase(MUSK) is a partial-length active protein expressed in vitro E.coli expression system. This protein contains the extracellular domain (24-495aa) of human MUSK and carries an N-terminal 6xHis-tag. Its purity is greater than 90% as determined by SDS-PAGE. And its bio-activity was measured and confirmed through the ADP-Glo Kinase detection kit. The EC50 of MUSK is 2.65-3.58 μg/ml. The recombinant MUSK protein can be used for specific antibody production. Besides, it may find uses in the studies of MUSK-related signal transduction.

MUSK is a receptor tyrosine kinase (RTK) that exerts a critical role in the formation and maintenance of neuromuscular synapses through the agrin/LRP4-dependent MuSK signaling pathway. Mutations in genes including agrin, MuSK, Dok7, rapsyn, or AChR, fail to form proper neuromuscular junctions (NMJs) or maintain them, ultimately cause congenital myasthenia, resulting in muscle weakness and fatigue. Autoantibodies against the AChR, MUSK, or Lrp4 are responsible for Myasthenia gravis (MG).

Target Background

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.

Gene References into Functions

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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Involvement in disease

Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9); Fetal akinesia deformation sequence (FADS)

Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein.

Protein Families

Protein kinase superfamily, Tyr protein kinase family

Database Links

HGNC: 7525

OMIM: 208150

KEGG: hsa:4593

STRING: 9606.ENSP00000363571

UniGene: Hs.521653

Code	CSB-CF015241HU
MSDS	MSDS Datasheet
Size	$878
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel. Activity Measured by ADP-Glo Kinase detection kit. The EC₅₀ of MUSK is 2.65-3.58 μg/ml.
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Recombinant Human Muscle, skeletal receptor tyrosine-protein kinase (MUSK), partial (Active)

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