GABRR3

Chr 3

gamma-aminobutyric acid type A receptor subunit rho3

NCBI Gene: 200959 ENSG00000183185 UniProt: A8MPY1 OMIM: 618668

The GABRR3 protein forms the rho subunit of pentameric GABA(C) receptors, which are ligand-gated chloride channels that mediate inhibitory neurotransmission in the brain by allowing chloride flow when activated by GABA. A common polymorphism (rs832032) is predicted to inactivate the gene product in some individuals, though specific disease associations with GABRR3 mutations are not established in the current literature.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted