This product is an active protein and may elicit a biological response in vivo, handle with caution.
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
機能Receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization.
関連疾患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.
配列類似性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.
翻訳後修飾Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation.