Price range: $268.00 through $328.00
Background:
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014],
| Size | 50μL/100μL |
| Target | LAL |
| Reactivity | Human |
| Applications | WB, ELISA |
| MW(Calculated) | 45kD |
| MW(Observed) | |
| Host Species | Mouse |
| Isotype | |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-1:2000; ELISA 1:10000; Not yet tested in other applications. |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | Affinity purification |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | |
| Clonality | Monoclonal |
| Clone Number | 3C10 |
| Immunogen | Purified recombinant fragment of LAL expressed in E. Coli. |
| Specificity | LAL Monoclonal Antibody detects endogenous levels of LAL protein. |
| Gene Name | LIPA |
| Protein Name | Lysosomal acid lipase/cholesteryl ester hydrolase |
| Other Name | LIPA; / Lysosomal acid lipase/cholesteryl ester hydrolase; / Acid cholesteryl ester hydrolase; / LAL; / Cholesteryl esterase; / Lipase A; / Sterol esterase |
| Species | Human |
| Gene ID | 3988 |
| Uniprot | P38571, |
| Species.1 | Mouse |
| Gene ID.1 | |
| Uniprot.1 | Q9Z0M5 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Lysosome . |
| Tissue Expression | 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. |
| Signaling_pathway | Cellular Processes >> Transport and catabolism >> Lysosome |
| Research Areas | >>Steroid biosynthesis; / >>Lysosome; / >>Cholesterol metabolism |
| Function | 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., |
