Synonyms:CMS9, ENTREZ:4593, FADS, FADS1, HGNC:7525, MIM:601296, MUSK, NM_001166280, NM_001166281, NM_001369398, NM_005592, NP_001159752, NP_001159753, NP_001356327, NP_005583, XM_005251994, XM_005251995, XM_005251996, XM_011518708, XM_017014734, XP_005252051, XP_005252052, XP_005252053, XP_011517010, XP_016870223, muscle associated receptor tyrosine kinase
Omim:OMIM:601296
Id:ENSG00000030304
Hgnc:HGNC:7525
Description:muscle associated 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]