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:  
LPL 基因突变与药物

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