Protein Name | muscle associated receptor tyrosine kinase |
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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 |
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Properties | |