γ2 GABA_AR Trafficking and the Consequences of Human Genetic Variation.

ABSTRACT: GABA type A receptors (GABA_ARs) mediate the majority of fast inhibitory neurotransmission in the central nervous system (CNS). Most prevalent as heteropentamers composed of two α, two β, and a γ2 subunit, these ligand-gated ionotropic chloride channels are capable of extensive genetic diversity (α1-6, β1-3, γ1-3, δ, 𝜀, 𝜃, π, ρ1-3). Part of this selective GABA_AR assembly arises from the critical role for γ2 in maintaining synaptic receptor localization and function. Accordingly, mutations in this subunit account for over half of the known epilepsy-associated genetic anomalies identified in GABA_ARs. Fundamental structure-function studies and cellular pathology investigations have revealed dynamic GABA_AR trafficking and synaptic scaffolding as cri

SUBMITTER: Lorenz-Guertin JM 

PROVIDER: S-EPMC6116786 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature