| Gene Symbol | SLC32A1 |
| Function | SLC32A1 encodes the vesicular GABA transporter (VGAT), also known as the vesicular inhibitory amino acid transporter (VIAAT). |
| Pathways | autophagy pathway, Apoptosis, Necroptosis, Pyroptosis |
| Ensembl ID | ENSG00000103838 |
| GeneCards | SLC32A1 |
| Human Protein Atlas | SLC32A1 |
| GABAergic Transmission | In GABAergic neurons, VGAT packages GABA for use in inhibitory synaptic transmission throughout the brain and spinal cord. |
| Glycinergic Transmission | In glycinergic neurons (primarily in the spinal cord and brainstem), VGAT packages glycine for inhibitory neurotransmission. |
| Mixed Transmission | Some neurons may release both GABA and glycine, particularly during development or in specific brain regions. |
| Onset | Seizures typically begin in infancy or early childhood |
| Phenotypes | Patients may present with infantile spasms, Lennox-Gastaut syndrome, or other epileptic encephalopathy patterns |
| Mechanism | Reduced GABA release from inhibitory interneurons disinhibits excitatory circuits, leading to seizure generation |
| Outcome | Many patients show intellectual disability and persistent seizures despite aggressive treatment |
| Inhibitory Circuit Development | Disrupted inhibitory neurotransmission during critical developmental periods may alter circuit formation and plasticity |
| E/I Balance | Imbalanced excitation-inhibition during development can have lasting effects on cognitive function and social behavior |
| Associated Diseases | Als, Cancer, Tumor |
| Interactions | GAD1, GRIA2, INS, NPY, PVALB, SLC17A6 |
| KG Connections | 100 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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