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The official name of this gene is “muscle, skeletal, receptor tyrosine kinase.”
MUSK is the gene's official symbol. The MUSK gene is also known by other names, listed below.
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]
Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation.
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD): A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. The disease is caused by mutations affecting the gene represented in this entry. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
|||608931 (http://omim.org/entry/608931)||MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|
|601296 (http://omim.org/entry/601296)||MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE|
Cytogenetic Location: 9q31.3-q32
Molecular Location on chromosome 9: base pairs 110,668,654 to 110,804,105
The MUSK gene is located on the long (q) arm of chromosome 9 between positions 31.3 and 32.
More precisely, the MUSK gene is located from base pair 110,668,654 to base pair 110,804,105 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MUSK helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
acetylcholine ; actin ; central nervous system ; congenital ; cytoskeleton ; deficiency ; gene ; gene expression ; kinase ; mediating ; motor ; motor neuron ; nervous system ; neuromuscular junction ; neuron ; phosphorylation ; plasticity ; prenylation ; presynaptic ; protein ; receptor ; skeletal muscle ; synapse ; syndrome ; transcript ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.