SLC6A3
Chr 5ARsolute carrier family 6 member 3
Also known as: DAT, DAT1, PKDYS, PKDYS1
This gene encodes the dopamine transporter that mediates sodium- and chloride-dependent reuptake of dopamine from synapses. Mutations cause autosomal recessive infantile parkinsonism-dystonia through loss-of-function, resulting in impaired dopamine clearance and disrupted dopaminergic signaling. The gene shows high constraint against loss-of-function variants, consistent with the severe phenotype when both alleles are affected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
Dopamine transporter (DAT). Biallelic LOF causes infantile parkinsonism-dystonia (DTDS). Reduced dopamine reuptake leads to dopaminergic dysfunction.
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC6A3 · 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
Brexpiprazole in Alcohol Use Disorder
RECRUITINGGDNF Gene Therapy for Parkinson's Disease
ACTIVE NOT RECRUITINGGDNF Gene Therapy for Multiple System Atrophy
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools