Gene: APOC2

Alternate names for this Gene: APO-CII|APOC-II

Gene Summary: This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: apolipoprotein C2

Type of Gene: protein-coding

Gene: APOC4-APOC2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs9304644 in APOC2;APOC4-APOC2 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs120074115 in APOC2;APOC4-APOC2 gene and Apolipoprotein C-II Deficiency (disorder) PMID 8323539 1993 A missense mutation (Trp 26-->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (apo CII-Wakayama).

rs1130742 in APOC2;APOC4-APOC2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.