{"symbol":"MUSK","synonyms":["FADS","CMS9"],"name":"muscle, skeletal, receptor tyrosine kinase","description":"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]","ncbiEntrezGeneId":4593,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4593","proteins":[{"symbol":"MUSK_HUMAN","href":"/api/1.0/protein/MUSK_HUMAN"}],"hgncRootFamilies":[{"name":"Receptor kinases","href":"/api/1.0/gene_family/Receptor+kinases"},{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"}]}