Neuromuscular HOMEepAGE
neuromuscular.wustl.edu
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MUSK

muscle associated receptor tyrosine kinase

9q31.3
Also known as: CMS9, FADS
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View full entry on WUSTL Neuromuscular
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Gene Summary

RefSeq / NCBI

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]

Associated Conditions

MYASTHENIA GRAVIS: DIAGNOSTIC TESTS
General

External Resources

WUSTL Neuromuscular
Washington University Disease Center
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.