APOC3

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. [provided by RefSeq, Sep 2017]

该基因编码一种三酰甘油（TG）富含的脂蛋白（TRLs）的蛋白质组分，包括极低密度脂蛋白（VLDL）、高密度脂蛋白（HDL）和乳糜微粒。编码的蛋白质通过多种机制参与这些TRLs的代谢。研究表明，该蛋白质可促进VLDL1的分泌，抑制脂蛋白脂肪酶酶活性，并延缓TRL残骸的分解代谢。该基因的突变与血浆三酰甘油水平降低和缺血性心血管疾病风险降低相关，以及高α脂蛋白血症，其特征为人类患者高密度脂蛋白（HDL）和HDL胆固醇水平升高。该基因及其他相关基因构成了位于第11号染色体上的载脂蛋白基因簇。[由RefSeq提供，2017年9月]