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GALC Antibody

  • 货号：
    CSB-PA277712
  • 规格：
    ￥1100
  • 图片：
    • Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane: Mouse brain tissue, Primary antibody: CSB-PA277712(GALC Antibody) at dilution 1/300, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 1 minute
  • 其他：

产品详情

  • Uniprot No.：
    P54803
  • 基因名：
  • 别名：
    Gacy antibody; Galactocerebrosidase antibody; Galactocerebroside beta galactosidase antibody; Galactocerebroside beta-galactosidase antibody; Galactosylceramidase antibody; Galactosylceramide beta galactosidase antibody; Galactosylceramide beta-galactosidase antibody; galactosylceraminidase antibody; GALC antibody; GALC_HUMAN antibody; GALCERase antibody; Twitcher antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthetic peptide of Human GALC
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:1000-1:2000
    WB 1:200-1:1000
  • 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：
    Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.
  • 基因功能参考文献：
    1. rs17203398 associated with mucous membrane pemphigoid PMID: 29136295
    2. The s present the structure of a glycosphingolipid-processing complex, revealing how SapA and GALC form a heterotetramer with an open channel connecting the enzyme active site to the SapA hydrophobic cavity. PMID: 29323104
    3. EMT phenotypes and GALC expression of CTCs are correlated with cancer metastasis and therapeutic outcomes, suggesting them to be potential markers for the prognosis of NSCLC. PMID: 29758927
    4. Results show for the first time that during normal aging, psychosine metabolism is progressively dysfunctional, leading to its accumulation in the aging brain, especially in regions vulnerable to degeneration in Parkinson's disease (PD). These results underline the possibility that defects in the metabolism mediated by changes in GALC activity modify the risk of developing alpha-synuclein pathology in vulnerable patients. PMID: 29481565
    5. we showed for the first time the specific alteration of beta-Galctosidase (Gal), beta-Galactosylcerebrosidase (GALC) in MCI patients. It is notable that in above peripheral biological samples the lysosomes are more sensitive to AD cellular metabolic alteration when compared to levels of Abeta-peptide or Tau proteins, similar in both AD groups analyzed PMID: 28825628
    6. This review illustrated The Krabbe's disease is caused by mutation in the enzyme Beta-galactocerebrosidase. PMID: 27638582
    7. This is the largest expression study of GALC variants/mutations found in Newborn screening and confirmed KD cases. PMID: 27638593
    8. We demonstrated that a heterozygous GALC deletion does not play a significant role in the pathogenesis of normal tension glaucoma in a representative clinic-based population of South Koreans, unlike whites. PMID: 25943734
    9. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia PMID: 26915362
    10. promoter hypermethylation contributed to down-regulation of GALC Gene, implicating epigenetic inactivation of GALC may play a role in tumorigenesis of cancer. PMID: 26617822
    11. Case Report: compound GALC heterozygosity in a boy with infantile Krabbe disease with severe clinical course. PMID: 27442402
    12. GALC was downregulated by promoter hypermethylation and contributed to the pathogenesis of EBV-associated nasopharyngeal carcinoma PMID: 26178533
    13. Genetic variants near IREB2 and GALC likely contribute to genetic susceptibility to PAE associated with COPD. PMID: 25101718
    14. Itis an exoglycosidase that catalyzes the hydrolysis of terminal beta-linked galactose residues and its deficiencies or mutation cause llysosomal diseases. (review) PMID: 23649392
    15. Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease. PMID: 24297913
    16. Higher galactocerebrosidase activity is predictive of later symptom onset times but does not predict survival after symptom onset when controlling for the logarithm of age at onset. PMID: 23044012
    17. study identified 4 novel mutations of the GALC gene in 2 unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, one nonsense mutation, c.599C>A (p.S200X),one deletion mutation, c.1911 1_1911 5delGTAAG and one missense mutation, c.2041G>A PMID: 23462331
    18. GALC mutation is associated with Krabbe disease. PMID: 23276707
    19. The p.Gly41Ser mutation was associated with longer survival with Krabbe disease. A wide spectrum of late onset Krabbe leukodystrophy is found despite similar genotype. PMID: 21070211
    20. suggest that heterozygous deletions that reduce GALC activity are a novel mechanism increasing risk of POAG PMID: 22073273
    21. This study, reporting one of the largest genotype-phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian GALC mutational profile differs significantly from other populations of European origin. PMID: 20886637
    22. This study analyzes the effects of Asp528Asn, Iso234Thr, and Leu629Arg mutations on GALC intracellular processing, secretion, uptake, and subcellular localization in mammalian cell lines. PMID: 20410102
    23. A GALC genotype with one deleted and one polymorphic GALC activity-reducing allele can lead to enzymatic and clinical signs of LOGLD in the absence of marked GALC-PS deficiency PMID: 11814461
    24. galactocerebrosidase and galactosylcerebroside have roles in cancer cells PMID: 15657896
    25. confirm several mutations common to Japanese patients, the two most frequent being 12Del3Ins and I66M+I289V, which account for 37% of all mutant alleles PMID: 16607461
    26. Psychosine reduces apoptotic response and causes atypical cytokine production in peripheral immune cells of Krabbe patients. PMID: 17458901
    27. molecular analysis in 5 families with late onset Krabbe disease from Catania, Sicily shows that this condition is mainly due to a p.Gly41Ser substitution in the GALC gene that abolishes catalytic activity of the galactocerebrosidase enzyme PMID: 17579360

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  • 相关疾病：
    Leukodystrophy, globoid cell (GLD)
  • 亚细胞定位：
    Lysosome.
  • 蛋白家族：
    Glycosyl hydrolase 59 family
  • 组织特异性：
    Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
  • 数据库链接：

    HGNC: 4115

    OMIM: 245200

    KEGG: hsa:2581

    STRING: 9606.ENSP00000261304

    UniGene: Hs.513439