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Description for Protein CHRNG

cholinergic receptor, nicotinic, gamma
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04818
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Acetylcholine receptor, muscle, gamma subunit; ACHRG
    Approved Symbol:
    CHRNG
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

  • Galantamine(db)

    Associated Genetic Diseases:

  • Escobar syndrome(Pd);
  • Multiple pterygium syndrome, lethal type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 00009 Entrez Gene ID: 1146 OMIM ID: 100730 Swissprot Accession: P07510;