基因注释：MUSK
官方信息
官方名称：muscle associated receptor tyrosine kinase
功能摘要：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].
关联疾病
该基因暂无关联疾病记录