SLC38A3

Chr 3AR

solute carrier family 38 member 3

Also known as: DEE102, G17, NAT1, SN1, SNAT3

NCBI Gene: 10991 ENSG00000188338 UniProt: Q99624 OMIM: 604437

The SLC38A3 protein is a sodium-coupled amino acid transporter that cotransports glutamine, histidine, and asparagine across cell membranes and plays a critical role in the glutamate-GABA-glutamine cycle in the brain by facilitating glutamine uptake into neurons for neurotransmitter synthesis. Biallelic mutations cause developmental and epileptic encephalopathy 102, an autosomal recessive disorder affecting brain development and causing seizures. This condition primarily impacts the central nervous system through disruption of amino acid transport essential for normal neurotransmitter metabolism.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables L-amino acid transmembrane transporter activity. Involved in histidine transport and neutral amino acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 102MIM #619881

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.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

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LOEUF

LOF

Mechanism· G2P