Gene Symbol | MUSK |
Entrez Gene ID | 4593 |
Full Name | muscle associated receptor tyrosine kinase |
Synonyms | CMS9,FADS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3); Fetal akinesia deformation sequence, 208150 (3) |