Human Lysosomal acid lipase/cholesteryl ester hydrolase(LIPA) ELISA kit

Code CSB-EL012972HU
Size 96T,5×96T,10×96T
Trial Size 24T ELISA kits trial application
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Product Details

Target Name lipase A, lysosomal acid, cholesterol esterase
Alternative Names Acid cholesteryl ester hydrolase ELISA Kit; CESD ELISA Kit; cholesterol ester hydrolase ELISA Kit; cholesterol ester storage disease ELISA Kit; Cholesteryl esterase ELISA Kit; Hydrolase deficiency ELISA Kit; LAL ELISA Kit; LAL deficiency cholesterol ester ELISA Kit; LICH_HUMAN ELISA Kit; lipA ELISA Kit; LIPA deficiency ELISA Kit; Lipase A ELISA Kit; lipase A; lysosomal acid; cholesterol esterase ELISA Kit; lysosomal acid lipase ELISA Kit; lysosomal acid lipase deficiency ELISA Kit; Lysosomal acid lipase/cholesteryl ester hydrolase ELISA Kit; Sterol esterase ELISA Kit
Abbreviation LIPA
Uniprot No. P38571
Species Homo sapiens (Human)
Sample Types serum, plasma, tissue homogenates, cell lysates
Detection Range 62.5 pg/mL-4000 pg/mL
Sensitivity 15.6 pg/mL
Assay Time 1-5h
Sample Volume 50-100ul
Detection Wavelength 450 nm
Research Area Metabolism
Assay Principle quantitative
Measurement Sandwich
Intra-assay Precision (Precision within an assay): CV%<8%
Three samples of known concentration were tested twenty times on one plate to assess.
Inter-assay Precision (Precision between assays): CV%<10%
Three samples of known concentration were tested in twenty assays to assess.
To assess the linearity of the assay, samples were spiked with high concentrations of human LIPA in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.
1:1Average %87
Range %82-90
1:2Average %105
Range %101-09
1:4Average %88
Range %85-91
1:8Average %94
Range %91-99
The recovery of human LIPA spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.
Sample TypeAverage % RecoveryRange
Serum (n=5) 8682-90
EDTA plasma (n=4)9490-100
Typical Data
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
40002.142 2.168 2.155 2.023
20001.851 1.732 1.792 1.660
10001.264 1.297 1.281 1.149
5000.898 0.887 0.893 0.761
2500.563 0.598 0.581 0.449
1250.352 0.346 0.349 0.217
62.50.201 0.206 0.204 0.072
00.131 0.133 0.132
and FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 5-7 working days

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Target Data

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.
Gene References into Functions
  1. Report LIPA variants/phenotype in childhood-onset lysosomal acid lipase deficiency. PMID: 28881270
  2. LAL activity is significantly reduced in NAFLD, compared to that in HCV patients. This finding is particularly evident in the pre-cirrhotic stage of disease. LAL activity is also correlated with platelet and white blood cell count, suggesting an analytic interference of portal-hypertension-induced pancytopenia on DBS-determined LAL activity. PMID: 28587063
  3. LAL plays a critical role in regulating mesenchymal stem cells' ability to stimulate tumor growth and metastasis, which provides a mechanistic basis for targeting LAL in MSCs to reduce the risk of cancer metastasis PMID: 27531897
  4. Report a marked reduction of LAL activity in patients with cryptogenic cirrhosis. PMID: 28396038
  5. LIPA mutations may have a role in with a clinical diagnosis of familial hypercholesterolemia PMID: 27423329
  6. Use CRISPR/Cas9 techniques to knockout LIPA in human induced pluripotent stem cells and differentiate them to macrophages. PMID: 28882870
  7. LIPA associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. PMID: 28958330
  8. Study demonstrates that liver cirrhosis from any etiology is characterized by a significant reduction of LAL activity but no known c.894G>A SNP, which is likely on an acquired base and independent from the etiology of hepatic disease. PMID: 27219619
  9. Coronary artery disease-associated coding variant rs1051338 causes reduced lysosomal LAL protein and activity because of increased LAL degradation. PMID: 28279971
  10. results indicate that LAL is the major acid RE hydrolase and required for functional retinoid homeostasis. PMID: 27354281
  11. These findings suggest a strong association between impaired LAL activity and Non-alcoholic fatty liver disease. PMID: 26288848
  12. lysosomal acid lipase in hepatocytes is a critical metabolic enzyme in controlling neutral lipid metabolism PMID: 26212911
  13. The observed loss-of-function phenotype in cholesteryl ester storage disease patients with the His295Tyr (H295Y) mutation in the LAL gene might arise from a combination of protein destabilization and the shift to a non-functional soluble aggregate. PMID: 25620107
  14. Case Report: Mexican sisters with heterozygous mutations in exon 4: c.253C>A and c.294C>G resulting in lysosomal acid lipase deficiency. PMID: 25624737
  15. Wolmans disease is a rare autosomal recessive lysosomal storage disease. PMID: 24832708
  16. To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without hepatomegaly, suggesting that this diagnosis can be easily missed. PMID: 24122380
  17. the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities. PMID: 24069331
  18. used (1)H magnetic resonance (MR) spectroscopy to characterize the abnormalities in hepatic lipid content and composition in patients with LAL deficiency PMID: 23624251
  19. The results show that lysosomal acid lipase E8SJM mutation carriers have an alteration in lipid profile with a Polygenic Hypercholesterolemia phenotype. PMID: 22795295
  20. CESD prevalence in African and Asian populations may require full-gene LIPA sequencing to determine heterozygote frequencies. CESD may be underdiagnosed in the general Caucasian and Hispanic populations. PMID: 23424026
  21. Mutations in lysosomal acid lipase A result in two phenotypes depending on the extent of lysosomal acid lipase deficiency. [Review] PMID: 23652569
  22. The expression of LIPA may be associated with increased phospholipid content in the brains of violent suicide completers. PMID: 23164340
  23. LIPA polymorphisms contribute to the interindividual variability observed in obesity-related metabolic complications PMID: 22395809
  24. study identified two novel mutations of LIPA gene in Wolman Disease patients which abolished the expression of LAL enzyme; also found that all cholesteryl ester storage disease patients carried the common mutant allele c.894G>A PMID: 22227072
  25. a novel paternally inherited c.482delA mutation in exon 5 of Lipase A that results in a frameshift mutation at amino acid 161 is reported in a fatal case of Wolman disease PMID: 21963785
  26. Lysosomal acid lipase in myeloid cells plays a critical role in maintaining normal hematopoietic cell development and balancing immunosuppression and inflammation. PMID: 21900179
  27. macrophage cholesteryl ester hydrolase associates with its intracellular substrate (lipid droplets) and hydrolyzes cholesteryl esters more efficiently from mixed droplets PMID: 16024911
  28. The human liver enzyme is expressed in hepatocytes, where it potentially regulates the synthesis of bile acids and thus the removal of cholesterol from the body. PMID: 16131527
  29. Although LAL contributed to the deesterification of DHEA-FAE, it was not solely responsible for the hydrolysis. PMID: 18796546
  30. the molecular characterization of three heterozygous patients with Cholesteryl Ester Storage Disease carrying the common LIPA gene mutation (c.894 G>A, del p.S275_Q298), in combination with two novel mutations resulting in null alleles, was reported. PMID: 19307143

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Involvement in disease Wolman disease (WOD); Cholesteryl ester storage disease (CESD)
Subcellular Location Lysosome
Protein Families AB hydrolase superfamily, Lipase family
Database Links

HGNC: 6617

OMIM: 278000

KEGG: hsa:3988

STRING: 9606.ENSP00000337354

UniGene: Hs.643030


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