Purified recombinant extracellular fragment of human MuSK (aa24-209) fused with hIgGFc tag expressed in HEK293 cell line.

MuSK Monoclonal Antibody detects endogenous levels of MuSK protein.

MUSK

Muscle, skeletal receptor tyrosine-protein kinase

MUSK ;
Muscle ;
skeletal receptor tyrosine-protein kinase ;
Muscle-specific tyrosine-protein kinase receptor ;
MuSK ;
Muscle-specific kinase receptor

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],

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.,

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. .