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

Chromosomal Location of Human Ortholog: 9q31.3-q32

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

Molecular Function: protein binding; protein-tyrosine kinase activity; transmembrane receptor protein tyrosine kinase activity; ATP binding

Biological Process: extracellular matrix organization and biogenesis; peptidyl-tyrosine phosphorylation; regulation of transcription, DNA-dependent; protein amino acid autophosphorylation; positive regulation of neuron apoptosis; multicellular organismal development; regulation of synaptic growth at neuromuscular junction; positive regulation of protein amino acid phosphorylation; cell differentiation; memory; neuromuscular junction development; transmembrane receptor protein tyrosine kinase signaling pathway

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