GABRE Chromosome X
Gamma-aminobutyric acid type A receptor subunit epsilon
Upload your DNA to see your personal genotypes for variants in GABRE.
What This Gene Does
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]
Gene Info
Gene Group
"Gamma-aminobutyric acid type A receptor subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000102287
Associated Conditions (1)
Short stature
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS998297769 | Health Risk | Pathogenic | Short stature, Short stature |