MUSK
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Official Full Name
muscle, skeletal, receptor tyrosine kinase -
Overview
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. -
Synonyms
MUSK;muscle, skeletal, receptor tyrosine kinase;muscle, skeletal receptor tyrosine-protein kinase;muscle-specific kinase receptor;muscle-specific tyrosine-protein kinase receptor;MGC126323;MGC126324
Recombinant Proteins
- Human
- Mouse
- Rat
- Cynomolgus
- Zebrafish
- Chicken
- Insect Cells
- Sf9 Insect Cell
- HEK293
- CHO
- Mouse myeloma cell line
- Wheat Germ
- E.coli
- Mammalian Cell
- Insect Cell
- Yeast
- in vitro E.coli expression system
- His&GST
- GST
- His
- Fc
- mIgG2a
- C-His&Avi
- His&Myc&SUMO
- His&Flag
- Non
- His&Fc&Avi
Background
What is MUSK protein?
MUSK (Muscle-Specific Kinase) protein is a transmembrane receptor protein primarily expressed in skeletal muscle. It belongs to the receptor tyrosine kinase (RTK) family and plays a crucial role in the development and maintenance of neuromuscular junctions (NMJs).
MUSK protein is essential for the proper formation and functioning of the NMJs, which are specialized synapses that connect motor neurons to skeletal muscle fibers. Upon binding to its ligands, such as agrin, MUSK activates intracellular signaling pathways that promote the clustering of acetylcholine receptors (AChRs) at the postsynaptic membrane of the NMJ. This clustering of AChRs is crucial for the transmission of signals from motor neurons to the muscle, leading to muscle contraction
What is the function of MUSK protein?
MUSK is involved in the development and maturation of skeletal muscle by mediating the signaling pathway that leads to muscle-specific gene expression. It plays a crucial role in the growth and differentiation of muscle cells during embryonic development. MUSK also functions in the clustering and anchoring of acetylcholine receptors at the neuromuscular junction, which is essential for proper synaptic transmission between motor neurons and muscle fibers.
MUSK related signaling pathway
The important signaling pathway involved in MUSK signaling includes the agrin-LRP4-MUSK pathway. Agrin binds to LRP4 (low-density lipoprotein receptor-related protein 4), which then interacts with and activates MUSK. Activated MUSK phosphorylates downstream targets, leading to AChR clustering and NMJ development.
MUSK Related Diseases
- Drug development: Targeting MUSK signaling pathway components could offer potential therapeutic strategies for neuromuscular disorders. Modulating MUSK activity or downstream signaling molecules may help improve neuromuscular transmission in conditions such as CMS.
- Biomarker development: MUSK protein levels or expression patterns could serve as potential biomarkers for diagnosing and monitoring neuromuscular diseases.
- Gene therapy: Restoring functional MUSK expression through gene therapy approaches could potentially benefit individuals with MUSK-related neuromuscular disorders.
- Myasthenia Gravis (MG) Treatment: MUSK protein plays a critical role in the formation and maintenance of neuromuscular junctions. Autoantibodies against MUSK can lead to a rare form of MG. Targeting the MUSK protein may offer therapeutic opportunities for the management of MG.
- Neuromuscular disorders: Defects or mutations in the MUSK gene can lead to various neuromuscular disorders, such as congenital myasthenic syndrome and fetal akinesia deformation sequence. Understanding the function of MUSK protein can aid in the development of potential therapeutic interventions for these disorders.
- Regenerative Medicine: MUSK protein is involved in the regulation of skeletal muscle formation and regeneration. Harnessing the regenerative capacity of MUSK protein can have applications in tissue engineering and regenerative medicine approaches for skeletal muscle repair.
- Cancer Research: MUSK protein has been implicated in certain types of cancers, such as breast cancer and lung cancer. It may play a role in cancer cell proliferation, invasion, and metastasis. Targeting MUSK protein signaling pathways may offer potential therapeutic strategies for cancer treatment.
- Myasthenia Gravis (MG) Treatment: MUSK protein plays a critical role in the formation and maintenance of neuromuscular junctions. Autoantibodies against MUSK can lead to a rare form of MG. Targeting the MUSK protein may offer therapeutic opportunities for the management of MG.
- Neuromuscular disorders: Defects or mutations in the MUSK gene can lead to various neuromuscular disorders, such as congenital myasthenic syndrome and fetal akinesia deformation sequence. Understanding the function of MUSK protein can aid in the development of potential therapeutic interventions for these disorders.
- Regenerative Medicine: MUSK protein is involved in the regulation of skeletal muscle formation and regeneration. Harnessing the regenerative capacity of MUSK protein can have applications in tissue engineering and regenerative medicine approaches for skeletal muscle repair.
- Cancer Research: MUSK protein has been implicated in certain types of cancers, such as breast cancer and lung cancer. It may play a role in cancer cell proliferation, invasion, and metastasis. Targeting MUSK protein signaling pathways may offer potential therapeutic strategies for cancer treatment.
Case Study
(Kinji Ohno, 2016)
Fig3. (A) Colq+/+ mice [41] and Colq−/− mice were injected with control-IgG or MuSK-IgG to make passive transfer models. Quadriceps muscle sections were stained for AChR by Alexa594-labeled α-bungarotoxin and for MuSK by immunostaining. Note reduced AChR and MuSK staining in both Colq+/+ and Colq−/− model mice. (B) Morphometric comparison of AChR and MuSK expressions in Colq+/+ and Colq−/− mice injected with MuSK-IgG. Values are normalized for the mean of Colq+/+ model mice. Mean and SEM (n = 3) are indicated. Statistical significance is estimated by Student's t-test. Note that the areas and intensities are more variable than the densities (area/intensity) for both AChR and MuSK.
(Ali H Hassan, 2016)
Fig4. Passive transfer of IgG of control (Ct.) and patient (Pt.) 2 to Colq−/− mice.(a) Representative quadriceps muscle sections of mice injected with IgG of Ct. and Pt. 2 are stained for AChR by Alexa594-labeled α-bungarotoxin and MuSK by immunostaining. Scale bar = 40 μm. Signal areas per NMJ (b), intensities per NMJ (c) and densities (intensity/area) (d) of AChR and MuSK are shown by mean and SEM. We analyzed 48 NMJs (Ct.) and 42 NMJs (Pt. 2) obtained from three model mice each. Signal areas and intensities are automatically quantified with MetaMorph (Molecular Devices). Open and closed bars represent Ct. and Pt. 2, respectively. Statistical analysis is performed with Student's t-test.
Quality Guarantee
High Purity
Fig1. SDS-PAGE (Cat. No.: MUSK-2466H)
High Bioactivity & Detection Sensitivity
Fig2. Intercellular communication is often mediated by receptors on the surface of one cell that recognize and are activated by specific protein ligands released by other cells. Members of one class of cell surface receptors, receptor tyrosine kinases (RTKs), are characterized by having a cytoplasmic domain containing intrinsic tyrosine kinase activity.
Involved Pathway
MUSK involved in several pathways and played different roles in them. We selected most pathways MUSK participated on our site, such as ECM proteoglycans,Extracellular matrix organization, which may be useful for your reference. Also, other proteins which involved in the same pathway with MUSK were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| ECM proteoglycans | COL9A3,PTPRS,BGNB,FMOD,MATN4,LRP4,BGNA,MATN3,ASPN,MATN3B |
| Extracellular matrix organization | COL9A1A,DST,COL3A1,BMP1A,COL23A1,TLDC2,PCOLCE2,COL13A1,TLL1,LEPREL2 |
Protein Function
MUSK has several biochemical functions, for example, ATP binding,metal ion binding,protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by MUSK itself. We selected most functions MUSK had, and list some proteins which have the same functions with MUSK. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| metal ion binding | MCM10,TNKS2,DOM3Z,UGP2,PDE4D,GDPD1,ZFP536,DGCR8,HMGCLL1,ZBTB16 |
| protein tyrosine kinase activity | CSF1RA,TTK,ROS1,Aatk,PTK2,SHC1,PTK2BB,BCR,SRC,EGFR |
| protein binding | GATA1A,RNASE1,HNRNPC,C10orf35,HAX1,RXRB,ACVR1L,ISOC1,Ar,DTX3 |
| ATP binding | KIF2C,RIPK2,PRKY,PCXB,PTK2AB,ABCF1,ITPKA,NEK3,UBE2U,ATP5A1 |
| transmembrane receptor protein tyrosine kinase activity | CADM2B,ROS1,EPHB4A,ERBB3A,TRIM27,MERTK,NTRK3A,PDGFRA,INSRA,NPTNB |
Interacting Protein
MUSK has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with MUSK here. Most of them are supplied by our site. Hope this information will be useful for your research of MUSK.
HSP90AB1;HSP90AA1;FKBP5;CDC37;HSP90AB1;Chrnb1
Resources
Research Area
Other Cytokines & ReceptorsReceptor Tyrosine Kinases (RTKs)
Synaptic Proteins
Wnt Receptors
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References
- Katarzyna, MZ; Belaya, K; et al. Collagen Q - A potential target for autoantibodies in myasthenia gravis. JOURNAL OF THE NEUROLOGICAL SCIENCES 348:241-244(2015).
- Ha, JC; Richman, DP; et al. Myasthenia gravis and related disorders: Pathology and molecular pathogenesis. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1852:651-657(2015).
