SLC6A11 Chromosome 3
Solute carrier family 6 member 11
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What This Gene Does
The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000132164
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61739720 | Health Risk | Conflicting classifications of pathogenicity | — |