Muscle, skeletal receptor tyrosine-protein kinase (MUSK),partial, human, recombinant

Organism: Homo sapiens (Human). Source: E.coli. Expression Region: 24-495aa. Protein Length: partial of Isoform 2. Tag Info: N-terminal GST-tagged. Target Protein Sequence: LPKAPVITTP LETVDALVEE VATFMCAVES YPQPEISWTR NKILIKLFDT RYSIRENGQL LTILSVEDSD DGIYCCTANN GVGGAVESCG ALQVKMKPKI TRPPINVKII EGLKAVLPCT TMGNPKPSVS WIKGDSPLRE NSRIAVLESG SLRIHNVQKE DAGQYRCVAK NSLGTAYSKV VKLEVEEESE PEQDTKVFAR ILRAPESHNV TFGSFVTLHC TATGIPVPTI TWIENGNAVS SGSIQESVKD RVIDSRLQLF ITKPGLYTCI ATNKHGEKFS TAKAAATISI AEWREYCLAV KELFCAKEWL VMEEKTHRGL YRSEMHLLSV PECSKLPSMH WDPTACARLP HLAFPPMTSS KPSVDIPNLP SSSSSSFSVS PTYSMTVIIS IMSSFAIFVL LTITTLYCCR RRKQWKNKKR ESAAVTLTTL PSELLLDRLH PNPMYQRMPL LLNPKLLSLE YPRNNIEYVR DI. Purity: Greater than 90% as determined by SDS-PAGE. Endotoxin: Not test. Biological Activity: n/a. Form: Liquid or Lyophilized powder. Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0. Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20 °C/-80 °C. Our default final concentration of glycerol is 50%. Customers could use it as reference. Storage: 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. Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4 °C for up to one week. Relevance: 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 mbrane. 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 mbranes 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 syst by mediating cholinergic responses, synaptic plasticity and mory formation .1 Publication. Reference: Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.Gallenmuller C., Muller-Felber W., Dusl M., Stucka R., Guergueltcheva V., Blaschek A., von der Hagen M., Huebner A., Muller J.S., Lochmuller H., Abicht A.Neuromuscul. Disord. 24:31-35(2014). 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