Article

Missense variants in GABA <sub>A</sub> receptor beta2 subunit disrupt receptor biogenesis and cause loss of function

2025-03-11

Abstract excerpt

Gamma-aminobutyric acid type A receptors (GABA A Rs) are the major inhibitory neurotransmitter-gated channel in the mammalian central nervous system. GABA A Rs function as heteropentamers, typically composed of two α1, two β2, and one γ2 subunits. Protein homeostasis between GABA A R folding, trafficking, assembly, and degradation is critical to ensure normal physiological functions. Variants in genes encoded f...

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Literature Corpus work: 4fbd8182-1e08-56c3-96ac-8d5df03ffe44
DOI: 10.1101/2025.03.09.642292

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