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FLASH GENE
Symbol GABRD contributors: - updated : 09-12-2005
HGNC name gamma-aminobutyric acid (GABA) A receptor, delta
HGNC id 4084
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region
  • four transmembrane segments,one of which forming the wall of the channel and a large intracellular loop
    • HOMOLOGY
    Homologene
    FAMILY ligand-gated ionic channel family
    CATEGORY receptor membrane ligand ion channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text localizing to extra and perisynaptic membrane
    basic FUNCTION
  • mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a pentameric receptor mediating inhibitory neurotransmission
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1P36 , GEFSP5
    Susceptibility to generalized epilepsy
    Variant & Polymorphism other Glu177Ala and Arg220His contributing to generalized epilepsy with febrile seizures or not
    Candidate gene for neuropsychiatric and neurodevelopmental abnormalities in del1p36 syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS