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Slc6a11 encode GABA transporters that are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) and mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters have been identified and localized to neurons and glia. The protein encoded by the Slc6a11 gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in the Slc6a11 gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for the Slc6a11 gene. Diseases associated with SLC6A11 include Tricuspid Valve Stenosis and Pulmonary Valve Insufficiency.
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Protein Aliases: GABA transporter 3; gamma-aminobutyric acid (GABA-A) transporter 4; GAT-3; GAT-4; Sodium- and chloride-dependent GABA transporter 3; Sodium- and chloride-dependent GABA transporter 4; solute carrier family 6 (neurotransmitter transporter), member 11; solute carrier family 6 (neurotransmitter transporter, GABA), member 11; Solute carrier family 6 member 11
Gene Aliases: D930045G19Rik; E130202I16Rik; GABT3; Gabt4; GAT-3; Gat-4; GAT3; GAT4; SLC6A11
UniProt ID: (Human) P48066, (Mouse) P31650
Entrez Gene ID: (Human) 6538, (Mouse) 243616
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