This product is an active protein and may elicit a biological response in vivo, handle with caution.
Muscle associated receptor tyrosine kinase
Muscle skeletal receptor tyrosine kinase
Muscle skeletal receptor tyrosine protein kinase
Muscle specific kinase receptor
Muscle specific tyrosine kinase receptor
Muscle specific tyrosine protein kinase receptor
Muscle-specific kinase receptor
Muscle-specific tyrosine-protein kinase receptor
Neural fold somite kinase 1
Neural fold somite kinase 2
Neural fold somite kinase 3
Neural fold somite kinase1
Neural fold somite kinase2
Neural fold somite kinase3
Receptor tyrosine kinase MuSK
Skeletal muscle receptor tyrosine kinase
skeletal receptor tyrosine-protein kinase
FunctionReceptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs 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.
Post-translational modificationsUbiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation.