GABRE
GABRE is a gene that encodes the epsilon subunit of the gamma-aminobutyric acid type A receptor (GABAA receptor), a neurotransmitter receptor involved in inhibitory neurotransmission in the central nervous system.
Function[edit | edit source]
The [[GABAA receptor]] is a pentameric structure composed of five subunits, with the epsilon subunit encoded by the GABRE gene. This receptor is an ionotropic receptor and ligand-gated ion channel. It mediates inhibitory synaptic transmission in the central nervous system through the action of the neurotransmitter gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the mammalian brain.
Clinical significance[edit | edit source]
Mutations in the GABRE gene have been associated with various neurological and psychiatric disorders, including epilepsy, anxiety disorders, and schizophrenia. However, the exact role of the epsilon subunit in these conditions is not fully understood and is the subject of ongoing research.
See also[edit | edit source]
- [[GABAA receptor]]
- Gamma-Aminobutyric acid
- Neurotransmitter
References[edit | edit source]
External links[edit | edit source]
- GABRE at the National Center for Biotechnology Information (NCBI)
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Contributors: Prab R. Tumpati, MD