Tangier disease: genes and variants
Tangier disease is linked to 1 analyzed protein (ABCA1). 5 DNA variants are known to cause it; 64 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 Tangier disease
ABCA1: Phospholipid-transporting ATPase ABCA1
It transfers cellular cholesterol and phospholipids to lipid-poor apolipoproteins, especially ApoA-I, initiating HDL formation and reverse cholesterol transport. Severe loss of function causes Tangier disease, while partial impairment can markedly lower HDL cholesterol.
5 disease-causing and 64 uncertain variants in ABCA1 are linked to Tangier disease.
Where Tangier disease variants cluster
- ABCA1 ABC transporter 1 (positions 899–1131): 3 of 5 disease-causing changes, 5.8× more than its size predicts.
Known disease-causing variants in Tangier disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCA1 R2080W | 2080 | ABC transporter 2 | Disease-causing (★★) |
| ABCA1 N935H | 935 | ABC transporter 1 | Disease-causing |
| ABCA1 N935D | 935 | ABC transporter 1 | Disease-causing |
| ABCA1 Q597R | 597 | Extracellular | Disease-causing |
| ABCA1 A937V | 937 | ABC transporter 1 | Disease-causing |
Diseases related to Tangier disease
- Hypoalphalipoproteinemia, primary, 1, also linked to ABCA1
Frequently asked questions
Which genes are linked to Tangier disease?
In CATVariant, Tangier disease is linked to 1 analyzed protein: ABCA1 (Phospholipid-transporting ATPase ABCA1).
How many genetic variants are linked to Tangier disease?
97 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 64 are of uncertain significance or have conflicting reports.
Which uncertain variants in Tangier 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.
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