Price range: $268.00 through $328.00
Background:
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.[provided by RefSeq, Oct 2009],
| Size | 50μL/100μL |
| Target | MuSK |
| Reactivity | Human |
| Applications | IHC, IF, ELISA |
| MW(Calculated) | |
| MW(Observed) | |
| Host Species | Mouse |
| Isotype | |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | IHC 1:200-1:1000; IF 1:200-1:1000; ELISA 1:10000; Not yet tested in other applications. / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004) |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | Affinity purification |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | |
| Clonality | Monoclonal |
| Clone Number | 6G8 |
| Immunogen | Purified recombinant extracellular fragment of human MuSK (aa24-209) fused with hIgGFc tag expressed in HEK293 cell line. |
| Specificity | MuSK Monoclonal Antibody detects endogenous levels of MuSK protein. |
| Gene Name | MUSK |
| Protein Name | Muscle, skeletal receptor tyrosine-protein kinase |
| Other Name | MUSK; / Muscle; / skeletal receptor tyrosine-protein kinase; / Muscle-specific tyrosine-protein kinase receptor; / MuSK; / Muscle-specific kinase receptor |
| Species | Human |
| Gene ID | 4593 |
| Uniprot | O15146, |
| Species.1 | Mouse |
| Gene ID.1 | |
| Uniprot.1 | Q61006 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein . Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction. . |
| Tissue Expression | |
| Signaling_pathway | |
| Research Areas | |
| Function | Catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.,Disease:Defects in MUSK is a cause of autosomal recessive congenital myasthenic syndrome (CMS) [MIM:608931]. Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.,Function:Receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization.,online information:MuSK entry,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family.,similarity:Contains 1 FZ (frizzled) domain.,similarity:Contains 1 protein kinase domain.,similarity:Contains 3 Ig-like C2-type (immunoglobulin-like) domains.,subunit:Interacts with DOK7, which probably regulates its activity., |
