SLC38A3
Chr 3ARsolute carrier family 38 member 3
Also known as: DEE102, G17, NAT1, SN1, SNAT3
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.
Population Genetics & Constraint
Constraint data not available from gnomAD.
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC38A3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools