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FLASH GENE
Symbol GABRB3 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 3
HGNC id 4083
ASSOCIATED DISORDERS
corresponding disease(s) AUTS4 , AS , DUP15QP , ECA5 , EIEE43
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
included in PWS/AS typically deleted region
constitutional     --low  
reduced expression could be one potential cause for the development of childhood absence epilepsy
Susceptibility
  • to childhood absence epilepsy
  • to autism
  • to Asperger syndrome (APGS)
  • to epileptic encephalopathies (EEs)
  • Variant & Polymorphism SNP , other
  • mutation leading to gain in glycosylation and to absence seizures
  • SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with APGS
  • Candidate gene the three GABA-A receptor subunit genes GABRB3, GABRB5, GABGRG3 are attractive candidate genes for idiopathic autism
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gabrb3 null mice exhibit behaviours consistent with autism . in mice, heterozygous Gabrb3 deletion is associated with increased tactile sensitivity
  • dysregulation of Fmrp-Grm5 signaling pathway, accompanied with a downregulation of Gabrb3 expression, may contribute to the 'autistic-like' features observed in En2 mice