Lipoprotein Lipase (LPL) ELISA Kit for Human

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]

LPL: The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium. Defects in LPL are the cause of lipoprotein lipase deficiency (LPL deficiency); also known as familial chylomicronemia or hyperlipoproteinemia type I. LPL deficiency chylomicronemia is a recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. Belongs to the AB hydrolase superfamily. Lipase family.

Protein type: EC 3.1.1.34; Lipid Metabolism - glycerolipid; Phospholipase; Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: 8p22

Cellular Component: cell surface; chylomicron; extracellular matrix; extracellular region; extracellular space; plasma membrane

Molecular Function: apolipoprotein binding; heparin binding; lipoprotein lipase activity; phospholipase activity; protein binding; receptor binding; triacylglycerol lipase activity; triglyceride binding

Biological Process: fat-soluble vitamin metabolic process; fatty acid biosynthetic process; lipoprotein metabolic process; phospholipid metabolic process; phototransduction, visible light; response to cold; response to drug; response to glucose stimulus; retinoid metabolic process; triacylglycerol biosynthetic process; triacylglycerol catabolic process; triacylglycerol metabolic process; vitamin metabolic process

Disease: Hyperlipidemia, Familial Combined; Hyperlipoproteinemia, Type I