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musk

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Official Full Name
muscle, skeletal, 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
MUSK; muscle, skeletal, receptor tyrosine kinase; muscle, skeletal receptor tyrosine-protein kinase; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; MGC126323; MGC126324; muscle, skeletal receptor tyrosine protein kinase; skeletal receptor tyrosine protein kinase; muscle-specific tyrosine protein kinase receptor; unp; fj98e12; zgc:63467; wu:fj98e12; si:dz46m7.2; si:dz57f23.3; si:busm1-57f23.3; unplugged

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