Entrez gene ID | | 4593 |
Official gene symbol | | MUSK |
Full name | | muscle, skeletal, receptor tyrosine kinase |
Aliases | | ,MGC126323,MGC126324, |
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. |
Location | | Chromosome: 9 Locus: 9q31.3-q32 |
Gene position | | 113431051 - 113563278 Map Viewer |
Gene orientation | | plus |
Gene size | | 132228 bp |
Gene sequence |
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OMIM ID | | 601296 |
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