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Apolipoprotein C3

APOC3 encodes an apolipoprotein that inhibits lipoproteinlipases. Mutations cause the autosomal dominat lipid disorder hyperalphalipoproteinemia 2 characterized possibly by low cardiovascular risk.

Gene Structure

APOA1-APOC3-APOA4 gene cluster shows a remarkable linkage disequilibrium, so if we find a disease association of a polymorphism in one of these genes it may be related to a polymorphism in an other of these genes as well.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperalphalipoproteinemia 2



Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

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Li Y et al. (2016) Apolipoprotein C3 gene variants and the risk of coronary heart disease: A meta-analysis.

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Song Y et al. (2015) Associations of the APOC3 rs5128 polymorphism with plasma APOC3 and lipid levels: a meta-analysis.

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Vu-Dac N et al. (1998) Retinoids increase human apo C-III expression at the transcriptional level via the retinoid X receptor. Contribution to the hypertriglyceridemic action of retinoids.

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Li WW et al. (1995) Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia.

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Dammerman M et al. (1993) An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms.

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Maeda H et al. (1981) Unusual familial lipoprotein C-III associated with apolipoprotein C-III-O preponderance.

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Maeda H et al. (1987) Molecular cloning of a human apoC-III variant: Thr 74----Ala 74 mutation prevents O-glycosylation.

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Oettgen P et al. (1986) PvuII polymorphic site upstream to the human ApoCIII gene.

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Henderson HE et al. (1987) Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes.

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Altomonte J et al. (2004) Foxo1 mediates insulin action on apoC-III and triglyceride metabolism.

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Waterworth DM et al. (2003) Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men.

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Talmud PJ et al. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.

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Coste H et al. (2002) Orphan nuclear hormone receptor Rev-erbalpha regulates the human apolipoprotein CIII promoter.

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von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.

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Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

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Wang QF et al. (2004) Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons.

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None (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.

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Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.

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Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.

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Orphanet article

Orphanet ID 160053 external link

NCBI article

NCBI 345 external link

OMIM.ORG article

Omim 107720 external link

Wikipedia article

Wikipedia EN (Apolipoprotein_C3) external link
Update: Aug. 14, 2020
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