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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AUTS4 , AS , DUP15QP , ECA5 , EIEE43

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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