MUSK Auto-antibodies
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]   Source
Gene Symbol MUSK Gene
Protein Name muscle, skeletal receptor tyrosine-protein kinase Uniprot
Synonyms muscle, skeletal receptor tyrosine-protein kinase; muscle-specific kinase receptor and 5 more synonyms used to describe this biomarker that Amplion uses in its algorithms.

Associated Biomarker Indications

Biomarkers sample