Gene: APOC3

Alternate names for this Gene: APOCIII

Gene Summary: This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: apolipoprotein C3

Type of Gene: protein-coding

rs121918382 in APOC3 gene and Apolipoprotein C-III Deficiency PMID 2022742 1991 Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.

rs5128 in APOC3 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs138326449 in APOC3 gene and High density lipoprotein measurement PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

PMID 30576415 2019 Very low-depth whole-genome sequencing in complex trait association studies.

rs4520 in APOC3 gene and Phosphatidylinositol measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs2070667 in APOC3 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs5128 in APOC3 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs5142 in APOC3 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs5142 in APOC3 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30576415 2019 Very low-depth whole-genome sequencing in complex trait association studies.

PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.