Protein name: N/D Aliases: BGT1 Substrates: betaine, GABA Transport type: N/D Tissue and cellular expression: brain, kidney, liver, heart, skeletal muscle, placenta Subcellular expression: N/D Disease: epilepsy Locus: 12p13 Sequence ID: NP_001116319.1, NM_001122847.2 NP_001116320.1, NM_001122848.2 NP_001193860.1, NM_001206931.1 NP_003035.3, NM_003044.4 Gene ID: 6539 Splice variants: N/D

S6A12_HUMAN (UniProt)

Gene names: SLC6A12
Protein names and data: S6A12_HUMAN, Full=Sodium- and chloride-dependent betaine transporter, Full=BGT-1;Full=Na(+)/Cl(-) betaine/GABA transporter;Full=Solute carrier family 6 member 12; Length: 614 a.a., Mass: 69368 Da,
fasta formatted sequence

Function: Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain

Database cross-references

UniProt: P48065
NextBio: 25443
OMIM: 603080
Ensembl: ENST00000536824
GeneCard: GC12M000169
TCDB: 2.A.22.3.1
PharmGenUCSF: SLC6A12
Guide to Pharmacology: SLC6A12 (932)
GABA transporter subfamily (932)

HGNC: HGNC:11045

Genetic variants

See also Ensembl:ENST00000536824