LongevityMap Gene
Gene details
- HGNC symbol
- GABRR3
- Aliases
- Common name
- gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)
- Description
- The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
- Cytogenetic Location
- 3q11.2
- UCSC Genome Browser
- View 3q11.2 on the UCSC genome browser
- OMIM
- Ensembl
- ENSG00000183185
- UniProt/Swiss-Prot
- GBRR3_HUMAN
- Entrez Gene
- 200959
- UniGene
- 534578
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Ashkenazi Jewish
- Study Design
- Next-generation sequencing was employed to identify novel variants in 988 candidate genes in 6 centenarians, revealing 89 novel non-synonymous SNPs. These were genotyped in 410 Ashkenazi Jewish controls and 390 centenarians.
- Conclusions
- Without correcting for multiple testing, the p.Y318C variant in PMS2 was significantly enriched while the p.V465A variant in GABRR3 was significantly depleted in centenarians
- Indentifier
- p.V465A
- Reference