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Validated All-in-One™ qPCR Primer for MUSK(NM_005592.3) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
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. This kinase activity is regulated by the binding of a cognate ligand to the extracellular portion of the receptor. DeChiara et al. (1996) [PubMed 8653786] noted that the RTKs, known to be expressed in cell type-specific fashions, play a role critical for the growth and differentiation of those cell types. For example, members of the neural-specific TRK family that recognize nerve growth factor are absolutely required for the survival and development of discrete neuronal subpopulations, and the receptor tyrosine kinases TIE1 (MIM 600222) and TIE2 (MIM 600221) play a critical role in the development of normal blood vessels.[supplied by OMIM].
Gene References into function
- analysis of regulation of MuSK expression by a novel signaling pathway
- Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability.
- Thus, an agrin/MuSK complex may form part of a motor neuron stop signal involved in "reverse signaling" to the motor neuron.
- A low-molecular weight isoform of muscle-specific receptor tyrosine kinase in human sperm localized in the flagellar mid-piece region.
- Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK
- Altogether, these results indicate that anti-MuSK Abs could be pathogenic by contributing to the muscle atrophy in MuSK+ MG patients.
- muscle-specific receptor tyrosine kinase activation and binding to dystroglycan are regulated by alternative mRNA splicing of agrin
- Testing of human myotubes for the presence and activation of MuSK by exposing them to laminin.
- 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.
- the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis.
- We describe a transient neonatal myasthenic syndrome with anti-musk antibodies.
- IgG from anti-MuSK-positive patients can cause myasthenia gravis when injected into mice.
- 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
- 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
