SLC32A1

Chr 20AD

solute carrier family 32 member 1

Also known as: DEE114, GEFSP12, VGAT, VIAAT, VIAAT GEFSP12

NCBI Gene: 140679 ENSG00000101438 UniProt: Q9H598 OMIM: 616440

The encoded protein transports GABA and glycine into synaptic vesicles as an integral membrane protein. Mutations cause developmental and epileptic encephalopathy 114 and generalized epilepsy with febrile seizures plus type 12 through an autosomal dominant inheritance pattern. The pathogenic mechanism involves gain-of-function mutations that disrupt normal inhibitory neurotransmitter packaging.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 114MIM #620774

Generalized epilepsy with febrile seizures plus, type 12MIM #620755

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

Multiple*

Mechanism· predicted