靶标:
MUSK
产品别名:
CMS9; FADS; FADS1; MUSK; muscle associated receptor tyrosine kinase; muscle associated receptor tyrosine kinase; muscle, skeletal receptor tyrosine-protein kinase; muscle, skeletal, receptor tyrosine kinase; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; 肌肉骨骼受体酪氨酸激酶; 骨骼肌特异性受体酪氨酸激酶(MUSK);
背景信息:
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],