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LIPA Antibody

  • 货号：
    CSB-PA012972GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P38571
  • 基因名：
  • 别名：
    Acid cholesteryl ester hydrolase antibody; CESD antibody; cholesterol ester hydrolase antibody; cholesterol ester storage disease antibody; Cholesteryl esterase antibody; Hydrolase deficiency antibody; LAL antibody; LAL deficiency cholesterol ester antibody; LICH_HUMAN antibody; lipA antibody; LIPA deficiency antibody; Lipase A antibody; lipase A; lysosomal acid; cholesterol esterase antibody; lysosomal acid lipase antibody; lysosomal acid lipase deficiency antibody; Lysosomal acid lipase/cholesteryl ester hydrolase antibody; Sterol esterase antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human LIPA
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Wolman disease (WOD); Cholesteryl ester storage disease (CESD)
  • 亚细胞定位：
    Lysosome.
  • 蛋白家族：
    AB hydrolase superfamily, Lipase family
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 6617

    OMIM: 278000

    KEGG: hsa:3988

    STRING: 9606.ENSP00000337354

    UniGene: Hs.643030