Analysis of GABRD Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1334-LGZ)

Introduction

Official Full Name: gamma-aminobutyric acid type A receptor subunit delta<br />Also known as: EJM7; EIG10; GEFSP5<br />Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the mammalian brain, acts on GABA-a receptors, which are ligand-gated chloride channels. The chloride conductivity of these channels can be modulated by benzodiazepines that bind GABA-A receptors. GABA-A receptors are generally pentameric, with five subunits: α, β, α, α, and α. This gene encodes the delta subunit. Mutations in this gene are associated with susceptibility to generalized epilepsy with febrile seizures (type 5). Alternative splicing transcript variants of this gene have been described, but their biological validity has not been established.