GABRR3 Chromosome 3

Gamma-aminobutyric acid type A receptor subunit rho3
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
3q11.2
Ensembl
ENSG00000183185
Associated Conditions (1)
Restless legs
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS832032 Health Risk Likely risk allele Restless legs, Restless legs
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