| Gene Symbol | SLC6A12 |
| Aliases | Betaine/GABA transporter (BGT1) gene |
| Chromosome | 12p12.1 |
| Protein Type | Gene |
| Function | is a member of the neurotransmitter symporter family (SLC6) and plays crucial roles in both GABAergic neurotransmission and cellular osmotic balance. |
| Primary Expression | various tissues, with highest expression in kidney and moderate expression in brain, where it contributes to the maintenance of inhibitory neurotransm |
| Molecular Weight | 70 kDa |
| Amino Acids | 614 aa |
| Exons | 16 |
| GeneCards | SLC6A12 |
| Human Protein Atlas | SLC6A12 |
| 12 transmembrane domains | Hydrophobic segments that span the plasma membrane, forming the translocation pore |
| N-glycosylation sites | Extracellular loops that may affect trafficking and function |
| Conserved transport motifs | Characteristic of the SLC6 family, including the " leucine transporter" (Leut) motif |
| Substrate binding pocket | Specificity for GABA, betaine, and related compounds |
| Associated Diseases | Alzheimer's disease, Parkinson's disease, Epilepsy |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!