MUSK Antibody – Mouse Monoclonal

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]

MUSK: a receptor tyrosine kinase that is essential for the establishment and maintenance of the neuromuscular junction (NMJ). Its activation by agrin, a neuronally derived heparan-sulfate proteoglycan, and the agrin receptor (LRP4), leads to clustering of acetylcholine receptors on the postsynaptic side of the NMJ. Its activation by agrin requires Dok7, which interacts with the cytoplasmic portion of MuSK and activates its tyrosine kinase activity.

Protein type: EC 2.7.10.1; Kinase, protein; Membrane protein, integral; Musk family; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group

Chromosomal Location of Human Ortholog: 9q31.3

Cellular Component: integral to plasma membrane; neuromuscular junction; postsynaptic membrane; receptor complex

Molecular Function: protein binding; protein-tyrosine kinase activity

Biological Process: memory; neuromuscular junction development; positive regulation of protein amino acid phosphorylation; protein amino acid autophosphorylation; regulation of synaptic growth at neuromuscular junction; transmembrane receptor protein tyrosine kinase signaling pathway

Disease: Fetal Akinesia Deformation Sequence; Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency