Recombinant Human Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase (LIPA) Protein (GST)

Name: Recombinant Human Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase (LIPA) Protein (GST)
Brand: Beta LifeScience
SKU: BLC-03492P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase (LIPA) Protein (GST) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P38571
Target Symbol	LIPA
Synonyms	Acid cholesteryl ester hydrolase; CESD; cholesterol ester hydrolase; cholesterol ester storage disease; Cholesteryl esterase; Hydrolase deficiency; LAL; LAL deficiency cholesterol ester; LICH_HUMAN; lipA; LIPA deficiency; Lipase A; lipase A; lysosomal acid; cholesterol esterase; lysosomal acid lipase; lysosomal acid lipase deficiency; Lysosomal acid lipase/cholesteryl ester hydrolase; Sterol esterase
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-GST
Target Protein Sequence	SGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
Expression Range	22-399aa
Protein Length	Full Length of Mature Protein
Mol. Weight	70.0kDa
Research Area	Metabolism
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.
Subcellular Location	Lysosome.
Protein Families	AB hydrolase superfamily, Lipase family
Database References	HGNC: 6617 OMIM: 278000 KEGG: hsa:3988 STRING: 9606.ENSP00000337354 UniGene: Hs.643030
Associated Diseases	Wolman disease (WOD); Cholesteryl ester storage disease (CESD)
Tissue Specificity	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.

Gene Functions References

Report LIPA variants/phenotype in childhood-onset lysosomal acid lipase deficiency. PMID: 28881270
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
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
Report a marked reduction of LAL activity in patients with cryptogenic cirrhosis. PMID: 28396038
LIPA mutations may have a role in with a clinical diagnosis of familial hypercholesterolemia PMID: 27423329
Use CRISPR/Cas9 techniques to knockout LIPA in human induced pluripotent stem cells and differentiate them to macrophages. PMID: 28882870
LIPA associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. PMID: 28958330
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
Coronary artery disease-associated coding variant rs1051338 causes reduced lysosomal LAL protein and activity because of increased LAL degradation. PMID: 28279971
results indicate that LAL is the major acid RE hydrolase and required for functional retinoid homeostasis. PMID: 27354281
These findings suggest a strong association between impaired LAL activity and Non-alcoholic fatty liver disease. PMID: 26288848
lysosomal acid lipase in hepatocytes is a critical metabolic enzyme in controlling neutral lipid metabolism PMID: 26212911
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
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
Wolmans disease is a rare autosomal recessive lysosomal storage disease. PMID: 24832708
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
the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities. PMID: 24069331
used (1)H magnetic resonance (MR) spectroscopy to characterize the abnormalities in hepatic lipid content and composition in patients with LAL deficiency PMID: 23624251
The results show that lysosomal acid lipase E8SJM mutation carriers have an alteration in lipid profile with a Polygenic Hypercholesterolemia phenotype. PMID: 22795295
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
Mutations in lysosomal acid lipase A result in two phenotypes depending on the extent of lysosomal acid lipase deficiency. [Review] PMID: 23652569
The expression of LIPA may be associated with increased phospholipid content in the brains of violent suicide completers. PMID: 23164340
LIPA polymorphisms contribute to the interindividual variability observed in obesity-related metabolic complications PMID: 22395809
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
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
Lysosomal acid lipase in myeloid cells plays a critical role in maintaining normal hematopoietic cell development and balancing immunosuppression and inflammation. PMID: 21900179
macrophage cholesteryl ester hydrolase associates with its intracellular substrate (lipid droplets) and hydrolyzes cholesteryl esters more efficiently from mixed droplets PMID: 16024911
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
Although LAL contributed to the deesterification of DHEA-FAE, it was not solely responsible for the hydrolysis. PMID: 18796546
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

FAQs

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.