Full Name: Muscle Associated 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.
Synonyms: CMS9; FADS
Research Areas: Signal Transduction
Pathways: Signal Transduction Pathway
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