GABRD — GABA-A Receptor Delta Subunit
Overview
flowchart TD
GABRD["GABRD"] -->|"associated with"| COAD["COAD"]
GABRD["GABRD"] -->|"associated with"| sexual_behavior["sexual_behavior"]
GABRD["GABRD"] -->|"expressed in"| SCN["SCN"]
GABRD["GABRD"] -->|"associated with"| GEFS_["GEFS+"]
GABRD["GABRD"] -->|"associated with"| cancer["cancer"]
GABRD["GABRD"] -->|"expressed in"| brain["brain"]
GABRD["GABRD"] -->|"associated with"| PMDD["PMDD"]
GABRD["GABRD"] -->|"expressed in"| PAG["PAG"]
GABRD["GABRD"] -->|"expressed in"| sperm["sperm"]
GABRD["GABRD"] -->|"associated with"| ESCC["ESCC"]
GABRD["GABRD"] -->|"associated with"| LGG["LGG"]
DEPDC1B["DEPDC1B"] -->|"interacts with"| GABRD["GABRD"]
TTR["TTR"] -->|"regulates"| GABRD["GABRD"]
alcohol["alcohol"] -->|"regulates"| GABRD["GABRD"]
style GABRD fill:#4fc3f7,stroke:#333,color:#000
Gabrd — Gaba A Receptor Delta Subunit plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Gabrd — Gaba A Receptor Delta Subunit is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@ncbi]
...GABRD — GABA-A Receptor Delta Subunit
Overview
Mermaid diagram (expand to render)
Gabrd — Gaba A Receptor Delta Subunit plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Gabrd — Gaba A Receptor Delta Subunit is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@ncbi]
The GABRD gene encodes the delta subunit of the GABA-A receptor. Delta subunit-containing receptors are extrasynaptic and mediate tonic inhibition, important for maintaining baseline neuronal excitability. These receptors are highly sensitive to neurosteroids and ethanol, and may play a role in neuroprotection. They are primarily located in extrasynaptic regions and contribute to the regulation of neuronal network oscillations.
Gene Overview
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0;">GABRD</th></tr>
<tr><td><b>Full Name</b></td><td>GABA-A Receptor Delta Subunit</td></tr>
<tr><td><b>Chromosome</b></td><td>1</td></tr>
<tr><td><b>Location</b></td><td>1p36.33</td></tr>
<tr><td><b>NCBI Gene ID</b></td><td>[2563](https://www.ncbi.nlm.nih.gov/gene/2563)</td></tr>
<tr><td><b>OMIM</b></td><td>[137161](https://www.omim.org/entry/137161)</td></tr>
<tr><td><b>Ensembl ID</b></td><td>[ENSG00000187730](https://www.ensembl.org/Human/Gene/Summary?g=ENSG00000187730)</td></tr>
<tr><td><b>UniProt ID</b></td><td>[O43513](https://www.uniprot.org/uniprotkb/O43513/entry)</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/coad" style="color:#ef9a9a">COAD</a>, <a href="/wiki/escc" style="color:#ef9a9a">ESCC</a>, <a href="/wiki/gefs+" style="color:#ef9a9a">GEFS+</a>, <a href="/wiki/lgg" style="color:#ef9a9a">LGG</a>, <a href="/wiki/pmdd" style="color:#ef9a9a">PMDD</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">15 edges</a></td>
</tr>
</table>
</div>
Function
The GABA-A receptor is a ligand-gated chloride channel that mediates fast inhibitory neurotransmission in the central nervous system. The GABRD subunit contributes to the formation of heteromeric receptor complexes that determine the pharmacological properties, subcellular localization, and trafficking of the receptor.
Receptor Composition
GABA-A receptors typically consist of 2 alpha, 2 beta, and 1 gamma (or delta) subunits. The specific subunit composition determines:
- Benzodiazepine sensitivity
- Kinetics of chloride channel opening
- Synaptic vs. extrasynaptic localization
- Neurosteroid modulation
Disease Associations
Associated Neurological Disorders
| Disease | Inheritance | Mechanism |
|---------|-------------|-----------|
| Juvenile Myoclonic Epilepsy | Various | Channel dysfunction |
| Peripheral Arterial Disease | Various | Altered inhibition |
| Various | Various | Seizure susceptibility |
| Various | Various | Neurodevelopmental |
Neurodegenerative Relevance
While primarily associated with epilepsy and neurodevelopmental disorders, GABA-A receptor dysfunction may contribute to:
- Excitotoxicity in neurodegenerative diseases
- Impaired neuronal calcium homeostasis
- [Neuroinflammation](/mechanisms/neuroinflammation) Sleep disturbances in [Alzheimer's](/diseases/alzheimers-disease) and [Parkinson's](/diseases/parkinsons-disease) diseases
Expression
The GABRD subunit shows distinct expression patterns across brain regions:
- Cerebral [Cortex](/brain-regions/cortex): High expression in layers II-IV
- [Hippocampus](/brain-regions/hippocampus): Prominent in CA1-CA3 regions
- Amygdala: Moderate to high expression
- Cerebellum: High expression in Purkinje cells
Key Publications
Rudolph U, et al. (1999). "GABA(A) receptor subtypes: benzodiazepine selectivity." Brain Research Bulletin. [DOI:10.1016/S0361-9230(99)00163-1](https://doi.org/10.1016/S0361-9230(99)00163-1)
Macdonald RL, et al. (2010). "GABAA receptor mutations associated with epilepsy." Neurotherapeutics. [DOI:10.1016/j.nurt.2010.02.003](https://doi.org/10.1016/j.nurt.2010.02.003)Overview
Gabrd — Gaba A Receptor Delta Subunit plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Gabrd — Gaba A Receptor Delta Subunit has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
Cross-References
- [GABA-A Receptor](/proteins/gaba-a-receptor) - Parent protein complex
- [GABA Signaling in Neurodegeneration](/mechanisms/gaba-signaling-neurodegeneration)
- [Epilepsy Mechanisms](/diseases/epilepsy)
- [GABRA Gene Family](/genes/gabra-gene-family) - Related subunits
See Also
- [Genes/Gabrd](/genes/gabrd) — This page
References
Unknown, UniProt - Protein information (n.d.)
Unknown, NCBI Gene - Gene database (n.d.)Pathway Diagram
The following diagram shows the key molecular relationships involving GABRD — GABA-A Receptor Delta Subunit discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)