Brain dopamine-serotonin vesicular transport disease: genes and variants
Brain dopamine-serotonin vesicular transport disease is linked to 1 analyzed protein (SLC18A2). 2 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Brain dopamine-serotonin vesicular transport disease
SLC18A2: Synaptic vesicular amine transporter
It packages dopamine, serotonin, norepinephrine, and other monoamines into acidic secretory vesicles for regulated release. Biallelic loss-of-function variants cause a severe monoamine neurotransmitter disorder, while pharmacologic inhibition is used to treat hyperkinetic movement disorders.
2 disease-causing and 4 uncertain variants in SLC18A2 are linked to Brain dopamine-serotonin vesicular transport disease.
Known disease-causing variants in Brain dopamine-serotonin vesicular transport disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC18A2 P387L | 387 | Lumenal, vesicle | Disease-causing (★★) |
| SLC18A2 P316A | 316 | Lumenal, vesicle | Disease-causing |
Diseases related to Brain dopamine-serotonin vesicular transport disease
- Alzheimer disease, also linked to SLC18A2
Frequently asked questions
Which genes are linked to Brain dopamine-serotonin vesicular transport disease?
In CATVariant, Brain dopamine-serotonin vesicular transport disease is linked to 1 analyzed protein: SLC18A2 (Synaptic vesicular amine transporter).
How many genetic variants are linked to Brain dopamine-serotonin vesicular transport disease?
8 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Brain dopamine-serotonin vesicular transport disease look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center