Aliases for SLC6A11 Gene
External Ids for SLC6A11 Gene
Previous GeneCards Identifiers for SLC6A11 Gene
Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11 (Borden et al., 1994 [PubMed 7874447]).[supplied by OMIM, Nov 2010]
GeneCards Summary for SLC6A11 Gene
SLC6A11 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 11) is a Protein Coding gene. Diseases associated with SLC6A11 include pulmonary valve insufficiency and meconium aspiration syndrome. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. 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 SLC6A4.
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 (GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2, GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains, extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA transporters are linked to epilepsy, affective disorders and schizophrenia.