GABRG3 Chromosome 15

Gamma-aminobutyric acid type A receptor subunit gamma3
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
15q12
Ensembl
ENSG00000182256
Associated Conditions (1)
Angelman syndrome
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1891450501 Health Risk Pathogenic Angelman syndrome, Angelman syndrome
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