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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
Corresponding disease
DEL1P36 chromosome 1p subtelomeric deletion syndrome
GEFSP5 generalized epilepsy with febrile seizures plus 5
Location 1p36.3      Physical location : 1.950.767 - 1.962.192
Synonym symbol(s) GAD
DNA
TYPE functioning gene
STRUCTURE 5.00 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbrainmedulla oblongata  
 braindiencephalonhypothalamus  
Reproductivefemale systembreast   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandular  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
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