LPL编码脂蛋白脂酶,在心脏、肌肉和脂肪组织中表达LPL是一种同二聚体,具有甘油三酯水解酶和配体/桥连因子的双重作用导致lpl缺乏的严重突变可导致i型高脂蛋白血症,而lpl中较少的极端突变与许多脂蛋白代谢紊乱有关。[由RefSeq提供,2008年7月]
LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
基因名: | LPL |
别名: | LIPD,HDLCQ11 |
基因ID: | 4023 |
Chromosome: (GRCh37) | 8 Start: 19796582 End: 19824770 Strand: |
信号通路: |