Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GABRA5 contributors: mct - updated : 19-12-2018
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 5
HGNC id 4079
ASSOCIATED DISORDERS
corresponding disease(s) EIEE79
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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