Missense variants in GABA_A receptor beta2 subunit disrupt receptor biogenesis and cause loss of function.

ABSTRACT: Gamma-aminobutyric acid type A receptors (GABA_ARs) are the major inhibitory neurotransmitter-gated channel in the mammalian central nervous system. GABA_ARs function as heteropentamers, typically composed of two α1, two β2, and one γ2 subunits. Protein homeostasis between GABA_AR folding, trafficking, assembly, and degradation is critical to ensure normal physiological functions. Variants in genes encoded for GABA_ARs lead to numerous neurological disorders, such as genetic epilepsy with or without neurodevelopmental delay. While these variants are associated with severe clinical presentations of epilepsy, the molecular mechanisms driving the disease remain to be elucidated. In this study, we focused on four missense epilepsy-associated variants (EA

SUBMITTER: Chen X 

PROVIDER: S-EPMC11952320 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature