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FLASH GENE
Symbol CHRNG contributors: mct - updated : 14-09-2013
HGNC name cholinergic receptor, nicotinic, gamma polypeptide
HGNC id 1967
Corresponding disease
MPTLT1 multiple pterygium syndrome, lethal type 1
MPTSE multiple pterygium syndrome, Escobar variant
Location 2q37.1      Physical location : 233.404.436 - 233.411.038
Synonym name
  • muscle nicotinic acetylcholine receptor gamma polypeptide
    • Synonym symbol(s) ACHRG
    DNA
    TYPE functioning gene
    STRUCTURE 6.61 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2187 - 517 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text fetal and denervated muscle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large N terminal extracellular domain
  • four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore
    • HOMOLOGY
    Homologene
    FAMILY cholinergic receptor family
    CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text postsynaptic membrane
    basic FUNCTION
  • responding, after binding acetylcholine, by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane
  • required for the formation of pre-patterned AChR (acetylcholine receptor) clusters, which in turn play an essential role in determining the subsequent pattern of neuromuscular synaptogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MPTSE , MPTLT1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS