muscle, skeletal receptor tyrosine protein kinase(muscle-specific tyrosine protein kinase receptor, MuSK)

Function

• receptor tyrosine kinase
• mediator of agrin's action
• role in neuromuscular junction organization (putative)
• interacts with DOK7, which regulates its activity (putative)

Structure

• belongs to the protein kinase superfamily, Tyr protein kinase family
• contains 1 FZ (frizzled) domain
• contains 3 Ig-like C2-type domain (immunoglobulin-like)
• contains 1 protein kinase domain

Compartment

membrane

Alternative splicing

named isoforms=3

Pathology

• defects in MUSK is a cause of autosomal recessive congenital myasthenic syndrome

More general terms

• tyrosine kinase receptor (RTK)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4593
• OMIM: https://mirror.omim.org/entry/600878
• OMIM: https://mirror.omim.org/entry/601296
• OMIM: https://mirror.omim.org/entry/608931
• UniProt: http://www.uniprot.org/uniprot/O15146.html