Muscle, Skeletal, Receptor Tyrosine Kinase (MUSK)

Muscle-specific tyrosine-protein kinase receptor; Muscle-specific kinase receptor

SPN	S509
HGNC	7525
MGI	103581
PubMed	12821509
RGD	3211
UniProt	O15146
Wiki	MuSK_protein

MuSK (for Muscle Specific Kinase) is a receptor tyrosine kinase required for the formation of the neuromuscular junction. It is activated by a nerve-derived proteoglycan called agrin. This protein binds to several receptors on the surface of skeletal muscle. The receptor which seems to be required for formation of the neuromuscular junction (NMJ), which comprises the nerve-muscle synapse is called MuSK (Muscle specific kinase). MuSK is a receptor tyrosine kinase - meaning that it induces cellular signaling by causing the addition of phosphate molecules to particular tyrosines on itself, and on proteins which bind the cytoplasmic domain of the receptor.In mice which are deficient for either agrin or MuSK, the neuromuscular junction does not form. Many other proteins also comprise the NMJ, and are required to maintain its integrity.

Reference

"Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury."
Neuron 15:573-584(1995) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization."
Mol. Cell 39:100-109(2010) [PubMed] [Europe PMC] [Abstract]

"Development and validation of a method for profiling post-translational modification activities using protein microarrays."
PLoS ONE 5:E11332-E11332(2010) [PubMed] [Europe PMC] [Abstract]

"MUSK, a new target for mutations causing congenital myasthenic syndrome."
Hum. Mol. Genet. 13:3229-3240(2004) [PubMed] [Europe PMC] [Abstract]

"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]

"Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes."
Neurology 73:1926-1928(2009) [PubMed] [Europe PMC] [Abstract]

"Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction."
Hum. Mol. Genet. 19:2370-2379(2010) [PubMed] [Europe PMC] [Abstract]

"A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia."
PLoS ONE 8:E53826-E53826(2013) [PubMed] [Europe PMC] [Abstract]

"Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence."
Eur. J. Hum. Genet. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]

"Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK."
Neuromuscul. Disord. 24:31-35(2014) [PubMed] [Europe PMC] [Abstract]

"MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)."
J. Med. Genet. 52:195-202(2015) [PubMed] [Europe PMC] [Abstract]