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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MUSK (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4593
Official gene symbolMUSK
Full namemuscle, skeletal, receptor tyrosine kinase
Aliases,MGC126323,MGC126324,
Gene summaryThis 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.
LocationChromosome: 9   Locus: 9q31.3-q32
Gene position113431051 - 113563278  Map Viewer
Gene orientationplus
Gene size132228 bp
Gene sequence
OMIM ID601296