Apolipoprotein c-III deficiency: genes and variants
Apolipoprotein c-III deficiency is linked to 1 analyzed protein (APOC3). 1 DNA variants are known to cause it; 2 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 Apolipoprotein c-III deficiency
APOC3: Apolipoprotein C-III
It raises plasma triglycerides by inhibiting lipoprotein-lipase-mediated lipolysis and slowing hepatic clearance of triglyceride-rich particles. Loss-of-function variants are associated with lower triglycerides and reduced coronary-disease risk, making APOC3 inhibition a therapeutic strategy for severe hypertriglyceridemia.
1 disease-causing and 2 uncertain variants in APOC3 are linked to Apolipoprotein c-III deficiency.
Known disease-causing variants in Apolipoprotein c-III deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOC3 K78E | 78 | Lipid-binding | Disease-causing |
Frequently asked questions
Which genes are linked to Apolipoprotein c-III deficiency?
In CATVariant, Apolipoprotein c-III deficiency is linked to 1 analyzed protein: APOC3 (Apolipoprotein C-III).
How many genetic variants are linked to Apolipoprotein c-III deficiency?
6 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Apolipoprotein c-III deficiency 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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