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FLASH GENE
Symbol GABRG3 contributors: mct - updated : 05-01-2017
HGNC name gamma-aminobutyric acid (GABA) A receptor, gamma 3
HGNC id 4088
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region
  • four transmembrane segments (4TM), one of which forming the wall of the channel and a large intracellular loop
  • a benzodiazepine binding site
    • conjugated GlycoP
    mono polymer heteromer , pentamer
    HOMOLOGY
    interspecies ortholog to murine Gabrg3
    homolog to rattus Gabrg3
    homolog to Drosophila Grd
    homolog to C.elegans T21C12.1a
    Homologene
    FAMILY ligand-gated ionic channel family
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    basic FUNCTION
  • involved in synaptic transmission
  • may be involved in the risk for alcohol dependence
  • expression levels of mRNA of SLC17A6 and GABRG3, involved in excitation and inhibition respectively, and increased post noise-exposure, plays a possible role in the cochlear nucleus (CN) spontaneous hyperactivity associated with tinnitus and hyperacusis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text chloride transport
    PATHWAY
    metabolism
    signaling neurotransmission
    gamma-aminobutyric acid signaling pathway
    a component
  • component of a pentameric receptor (alpha, beta, gamma, delta and rho) mediating inhibitory neurotransmission
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to benzodiazepine
  • NDEL1 enzyme activity was found to be associated with CAMK1D, MAGI2, CCDC25, and GABGR3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    mapped within the commonly deleted PWS/AS region
    Susceptibility
  • to autistic disorder
  • to alcohol dependence
    • Variant & Polymorphism SNP
  • exon 5 and intron 5 contributing torisk of autistic disorder
  • association between alcohol dependence and GABRG3
    • Candidate gene GABA A-receptor subunit genes are cadidate genes for autism (see GABRB3)
    Marker
    Therapy target
    ANIMAL & CELL MODELS