SLC32A1
Function
Antiporter that exchanges vesicular protons for cytosolic 4-aminobutanoate or to a lesser extend glycine, thus allowing their secretion from nerve terminals. The transport is equally dependent on the chemical and electrical components of the proton gradient (By similarity). May also transport beta-alanine (By similarity). Acidification of GABAergic synaptic vesicles is a prerequisite for 4-aminobutanoate uptake (By similarity).
Involvement in disease
Generalized epilepsy with febrile seizures plus 12
GEFSP12
An autosomal dominant neurologic disorder with variable expressivity and incomplete penetrance. Affected individuals have variable types of seizures, most often febrile seizures, sometimes combined with non-febrile focal or generalized seizures. Rarely, afebrile tonic-clonic seizures have been observed.
None
The disease may be caused by variants affecting the gene represented in this entry.
Developmental and epileptic encephalopathy 114
DEE114
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE114 is an autosomal dominant form characterized by moderate-to-severe intellectual disability, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic or dyskinetic movement disorder.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the amino acid/polyamine transporter 2 family.
Tissue Specificity
Retina. Expressed throughout the horizontal cells or more specifically at the terminals.
Cellular localization
- Cytoplasmic vesicle membrane
- Multi-pass membrane protein
- Presynapse
- Presents in glycine-, GABA- or GABA- and glycine-containing boutons.
Alternative names
VGAT, VIAAT, SLC32A1, Vesicular inhibitory amino acid transporter, GABA and glycine transporter, Solute carrier family 32 member 1, Vesicular GABA transporter, hVIAAT