Recombinant Human Lysosomal acid lipase/cholesteryl ester hydrolase (LIPA)

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中文名稱：

人LIPA重組蛋白
貨號：

CSB-EP012972HU
說明書：

MSDS Datasheet
規(guī)格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

LIPA
Uniprot No.：

P38571
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

E.coli
分子量：

70.0kDa
表達(dá)區(qū)域：

22-399aa
氨基酸序列

SGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal GST-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

3-7 business days
注意事項(xiàng)：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評價(jià)

靶點(diǎn)詳情

功能：

Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.
基因功能參考文獻(xiàn)：
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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相關(guān)疾病：

Wolman disease (WOD); Cholesteryl ester storage disease (CESD)
亞細(xì)胞定位：

Lysosome.
蛋白家族：

AB hydrolase superfamily, Lipase family
組織特異性：

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.
數(shù)據(jù)庫鏈接：

HGNC: 6617

OMIM: 278000

KEGG: hsa:3988

STRING: 9606.ENSP00000337354

UniGene: Hs.643030