GABRR2 Chromosome 6

Gamma-aminobutyric acid type A receptor subunit rho2
1 variant 1 Health Risk

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What This Gene Does
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
6q15
Ensembl
ENSG00000111886
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS61739705 Health Risk Conflicting classifications of pathogenicity —
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