功能： catalytic activity:A steryl ester + H(2)O = a sterol + a fatty acid.,disease: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.,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.,function: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.,similarity:Belongs to the AB hydrolase superfamily. Lipase family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome .
组织表达： Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart.
功能： catalytic activity:A steryl ester + H(2)O = a sterol + a fatty acid.,disease: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.,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.,function: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.,similarity:Belongs to the AB hydrolase superfamily. Lipase family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome .
组织表达： Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart.
在线咨询
湘公网安备