muscle, skeletal, receptor tyrosine kinase|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] (NCBI Entrez Gene Database, 4593)
Similar Terms
Downloads & Tools
Genes
6 genes co-occuring with the biological term musk in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
