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.