GABRE - gamma-aminobutyric acid type A receptor subunit epsilon Gene
Species: Homo sapiens
About GABRE
This gene has 12 transcripts (splice variants), 108 orthologues and 45 paralogues. Broad expression in skin (RPKM 13.6), fat (RPKM 13.4) and 17 other tissues.
Summary
The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]
GABRE Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004961.4 | NP_004952.2 | gamma-aminobutyric acid receptor subunit epsilon precursor |
GABRE Protein Structure
Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (72 - 264)
Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (285 - 500)
- 0
- 100
- 200
- 300
- 400
- 506 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gamma-aminobutyric acid receptor subunit epsilon |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Epilepsy, Idiopathic Generalized 12 |
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| Dystonia 9 |
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| Essential Tremor |
|
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| Generalized Epilepsy With Febrile Seizures Plus |
|
|
Related Agents
- Pre-clinical Phase
Pre-clinical Phase
| Cat. No. | Product Name |
Effect
|
Purity |
Rare Diseases
|
|---|---|---|---|---|
| HY-RS05219 | GABRE Human Pre-designed siRNA Set A | Pre-designed Set | / | Unkown |
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