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FLASH GENE

Symbol

GABRA5

contributors: mct - updated : 19-12-2018

HGNC name	gamma-aminobutyric acid (GABA) A receptor, alpha 5
HGNC id	4079

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE79

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     mapped within the commonly deleted PWS/AS region constitutional germinal mutation     loss of function in autism-like behaviors

Susceptibility

susceptibility to bipolar affective disorder (? MAFD10) to Panic disorder (PD)

Variant & Polymorphism SNP	rs2075716, and rs35399885, are associated to PD

Candidate gene	GABA A-receptor subunit genes are candidate genes for autism (see GABRB3)
Marker
Therapy target

ANIMAL & CELL MODELS

	Gabra5-null mice and alpha5 subunit((H105R)) knock-in mice exhibit signs of hippocampal dysfunction, but are capable of improved performance in several learning and memory tasks
	in alpha5(H105R) mice a behavioral-cognitive phenotype affecting basal locomotion and the memory for location of objects indicative of hippocampal dysfunction resulting from moderately decreased alpha5-subunit contents
	deletion of Gabra5 caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations