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MUSK

Official Full Name
muscle associated receptor tyrosine kinase
Organism
Homo sapiens
GeneID
4593
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.[provided by RefSeq, Oct 2009]
Synonyms
CMS9; FADS; FADS1;

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