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Description for Protein MUSK

muscle, skeletal, receptor tyrosine kinase
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • IGC2: Immunoglobulin C-2 Type
  • TM: Transmembrane domain
  • Tyr_Kinase: tyrosine kinase domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.10.1
    KEGG - Orthology:
    K05129
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Receptor tyrosine kinase MuSK; Muscle, skeletal receptor tyrosine kinase
    Approved Symbol:
    MUSK
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 03190 Entrez Gene ID: 4593 OMIM ID: 601296 Swissprot Accession: O15146;