Protein Name muscle associated receptor tyrosine kinase
Organism Homo sapiens
Gene ID 4593
Gene Symbol

MUSK

UniProt O15146 (MUSK_HUMAN), A0A087WSY1 (A0A087WSY1_HUMAN)
Relationships Total Number of functionally related compound(s) : 95
Total Number of Articles : 132
Description

muscle associated receptor tyrosine kinase

Gene Summary

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]

synonyms
  • muscle, skeletal receptor tyrosine-protein kinase
  • muscle, skeletal, receptor tyrosine kinase
  • muscle-specific kinase receptor
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Properties