MUSK Protein

Muscle, skeletal, receptor tyrosine kinase

MUSK Products

MUSK Protein, Recombinant

Molecule	Species	Description	Cat. No
MUSK	Human	MUSK (aa 433-783) Protein, Recombinant, with GST Tag	11918-H20B

MUSK Related Areas

Enzyme>>Protein Kinase>>Receptor Tyrosine Kinase>>MUSK

Signal Transduction>>Protein Kinase>>Receptor Tyrosine Kinase>>MUSK

Cancer>>Growth Factor & Receptor>>Receptor Tyrosine Kinase>>MUSK

MUSK Alternative Names

MUSK, RP11-104M22.1, MGC126323, MGC126324 [Homo sapiens]

Musk, RP23-170A3.1, MGC117677, Mdk4, Mlk, Nsk1, Nsk2, Nsk3 [Mus musculus]

MUSK Background

Muscle, skeletal receptor tyrosine-protein kinase, also known as Muscle-specific tyrosine-protein kinase receptor, Muscle-specific kinase receptor, and MUSK, is a single-pass type I membrane protein which belongs to the protein kinase superfamily and tyr protein kinase family. MUSK contains one FZ (frizzled) domain, three Ig-like C2-type (immunoglobulin-like) domains and one protein kinase domain. This protein is a muscle-specific tyrosine kinase receptor and it may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. MUSK expression is increased in muscle cells stimulated with Wnt or at conditions when the Wnt signaling was activated. MUSK is a muscle-specific receptor tyrosine kinase that is activated by agrin. It has a critical role in neuromuscular synapse formation. MUSK is a receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization. Defects in MUSK encoding gene is a cause of autosomal recessive congenital myasthenic syndrome (CMS). 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. Mutations in this receptor encoding gene also have been associated with congenital myasthenic syndrome.

MUSK Related Studies

1. Glass D, et al. (1996) Agrin acts via a MuSK receptor complex. Cell. 85 (4): 513–23.
2. DeChiara T, et al. (1996) The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell. 85 (4): 501–12.
3. Hoch W, et al. (2001) Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med. 7 (3): 365–8.