Apoc3

This gene encodes an apolipoprotein which is the major protein component of very-low-density lipoproteins (VLDL) and a minor component of high-density lipoproteins (HDL). The encoded protein is thought to regulate the metabolism of triglyceride-rich lipoproteins and play a role in lipid storage and the mobilization of fat cells. This gene is clustered with three other apolipoprotein genes on chromosome 9 and is associated with coronary disease. Mice lacking this gene have lower levels of total cholesterol in the plasma. Mutations in the human genes causes hyperalphalipoproteinemia 2, a disorder of lipid metabolism which results in a favorable lipid profile (lower LDL-cholesterol, higher HDL-cholesterol and lower levels of serum triglycerides when fasting and after a meal). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

本基因编码的载脂蛋白是极低密度脂蛋白（VLDL）的主要蛋白质成分，以及高密度脂蛋白（HDL）的次要成分。该编码蛋白被认为调控富含甘油三酯的脂蛋白代谢，并在脂质储存及脂肪细胞动员中发挥重要作用。该基因与染色体9上的其他三个载脂蛋白基因紧密连锁，并与冠心病相关。缺乏此基因的小鼠血浆中总胆固醇水平较低。人类基因的突变可导致高α-脂蛋白血症2，这是一种脂质代谢紊乱，表现为有益的血脂谱（空腹及餐后LDL-胆固醇降低、HDL-胆固醇升高及血清甘油三酯水平降低）。可变剪接导致多种转录本变体。[由RefSeq提供，2014年1月]