Editing GABRD

'''GABRD''' is a gene that encodes the delta subunit of the [[gamma-aminobutyric acid]] (GABA) A receptor in humans. The GABA A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene is located on chromosome 1p36.3, a region that is often deleted in neuroblastoma and other types of cancer. 

==Structure==
The GABRD gene is approximately 6 kb in length and consists of nine exons. The gene encodes a protein of 501 amino acids with a predicted molecular weight of approximately 56 kDa. The protein has four transmembrane domains and is thought to have a role in the assembly and/or function of the GABA A receptor.

==Function==
The GABRD gene encodes the delta subunit of the GABA A receptor, which is a member of the ligand-gated ion channel family. The receptor is a pentameric structure, consisting of five subunits, and is located at [[synaptic]] and extrasynaptic sites in the brain. The delta subunit is thought to confer sensitivity to the sedative effects of certain drugs, such as [[ethanol]] and [[benzodiazepines]].

==Clinical significance==
Mutations in the GABRD gene have been associated with a variety of neurological and psychiatric disorders, including [[epilepsy]], [[insomnia]], and [[anxiety disorders]]. In particular, a single nucleotide polymorphism (SNP) in the GABRD gene has been linked to the risk of childhood absence epilepsy and febrile seizures. 

==Research==
Research on the GABRD gene and its encoded protein is ongoing, with a focus on understanding the role of this gene in normal brain function and in disease. Studies are also being conducted to investigate the potential of targeting the GABA A receptor delta subunit for the treatment of various neurological and psychiatric disorders.

[[Category:Genes]]
[[Category:Neuroscience]]
[[Category:Psychiatry]]
[[Category:Medicine]]

{{medicine-stub}}
{{No image}}
__NOINDEX__