SLC6A12
Description
The SLC6A12 (solute carrier family 6 member 12) is a protein-coding gene located on chromosome 12.
SLC6A12 encodes the sodium- and chloride-dependent betaine transporter, also known as Na(+)/Cl(-) betaine/GABA transporter (BGT-1). BGT-1 is predominantly expressed in the liver (hepatocytes). It is also expressed in the kidney where it is regulated by NFAT5 during a response to osmotic stress. Additionally, BGT1 is present in the leptomeninges surrounding the brain. Deletion of the BGT1 gene in mice did not appear to have any impact on the tendency to develop epilepsy.
SLC6A12 encodes a transporter that mediates the cellular uptake of betaine and GABA in a sodium- and chloride-dependent process. It may play a role in regulating GABAergic transmission in the brain by reuptaking GABA into presynaptic terminals and in osmotic regulation. It is likely also involved in renal and hepatic osmotic regulation.
SLC6A12 is also known as BGT-1, BGT1, GAT2.
