Receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization.
Involvement in disease
Defects in MUSK is a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]. A post-synaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Note=MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
Belongs to the protein kinase superfamily. Tyr protein kinase family. Contains 1 FZ (frizzled) domain. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain.
Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation.