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脂蛋白脂肪酶(LPL)是一种催化乳糜微粒和极低密度脂蛋白中甘油三酯分解的糖蛋白,表达基因定位于8P~(22),由10个外显子和9个内含子组成,非编码区域存在多种遗传多态位点。其表达受到多种位点的调控。错义和无义突变是LPL缺乏症的常见突变类型。
Lipoprotein lipase (LPL) is a glycoprotein that catalyzes the breakdown of triglycerides from chylomicrons and very-low-density lipoproteins. The gene is located at 8P-22 and consists of 10 exons and 9 introns Composition, non-coding region, there are many genetic polymorphic loci. Its expression is regulated by a variety of loci. Missense and nonsense mutations are common types of mutations in LPL deficiency.