muscle, skeletal, receptor tyrosine kinase, MUSK
protein-tyrosine kinase, receptor tyrosine kinase, skeletal muscle receptor tyrosine kinase

  Background  
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.

  Product Information  

  Gene/Protein Information