The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 µg/µl.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Acid cholesteryl ester hydrolase
cholesterol ester hydrolase
cholesterol ester storage disease
LAL deficiency cholesterol ester
lipase A, lysosomal acid, cholesterol esterase
lysosomal acid lipase
lysosomal acid lipase deficiency
Lysosomal acid lipase/cholesteryl ester hydrolase
Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.
Involvement in disease
Defects in LIPA are the cause of Wolman disease (WOD) [MIM:278000]. WOD is a severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WOD occurs in infancy and is nearly always fatal before the age of 1 year. Defects in LIPA are the cause of cholesteryl ester storage disease (CESD) [MIM:278000]. CESD is a mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.
Belongs to the AB hydrolase superfamily. Lipase family.