Aliases for SLC6A11 Gene
External Ids for SLC6A11 Gene
Previous GeneCards Identifiers for SLC6A11 Gene
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]
GeneCards Summary for SLC6A11 Gene
SLC6A11 (Solute Carrier Family 6 Member 11) is a Protein Coding gene. Diseases associated with SLC6A11 include Tricuspid Valve Stenosis and Pulmonary Valve Insufficiency. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A13.
UniProtKB/Swiss-Prot for SLC6A11 Gene
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.
GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that 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.