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  4. Recombinant Human N-acetylgalactosamine-6-sulfatase (GALNS)

Recombinant Human N-acetylgalactosamine-6-sulfatase (GALNS)

In Stock
  • 货号：
    CSB-EP009202HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    GALNS
  • Uniprot No.：
  • 别名：
    GALNSN-acetylgalactosamine-6-sulfatase; EC 3.1.6.4; Chondroitinsulfatase; Chondroitinase; Galactose-6-sulfate sulfatase; GalN6S; N-acetylgalactosamine-6-sulfate sulfatase; GalNAc6S sulfatase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 来源：
    E.coli
  • 分子量：
    82.4kDa
  • 表达区域：
    27-522aa
  • 氨基酸序列
    APQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal GST-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    3-7 business days
  • 注意事项：
    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.

产品评价

靶点详情

  • 基因功能参考文献：
    1. Enzyme replacement therapy (ERT) with recombinant human GALNS (elosulfase alfa, Vimizim(R), BioMarin Pharmaceutical Inc., Novato, CA) has recently been approved as a treatment option for Morquio A. Elosulfase alfa enzyme replacement therapy associated with long-term endurance improvements in Morquio A. PMID: 27380995
    2. Missense mutation of GALNS is associated with mucopolysaccharidosis type IV A. PMID: 28397226
    3. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families. Sequence analysis revealed four novel mutations; three nonsense mutations (p.Q12X, p.Q220X, p.Y254X) and one missense mutation, p.D40G. All four patients were offspring of consanguineous marriages and were homozygous for the corresponding mutation. PMID: 27825773
    4. A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. PMID: 25545067
    5. The goals were to analyze and characterize the secondary structure, regions of intrinsic disorder and physicochemical characteristics of three classes of mutations described in the enzyme N-acetylgalactosamine-6-sulfatase. PMID: 25501214
    6. A review of mutations in the GALNS gene associated with Morquio A syndrome. PMID: 25137622
    7. Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function. PMID: 24726177
    8. 2 unrelated Turkish patients had 2 homozygous known mutations: p.L390X in exon 11 and p.W141R in exon 4. The p L390X mutation was associated with 4 novel polymorphisms in intron 2, intron 5 and intron 6 and a known polymorphism in exon 7. PMID: 24411403
    9. Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients PMID: 23876334
    10. GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China PMID: 24035930
    11. Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients. PMID: 23401410
    12. missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA. PMID: 23313879
    13. Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery PMID: 22940367
    14. Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations. PMID: 22078177
    15. Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes. PMID: 21251309
    16. GALNS mutations are associated with Mucopolysaccharidosis IVA. PMID: 20574428
    17. 6-bp deletion in exon 1 of GALNS gene. PMID: 11524742
    18. Beside mutations, one previously identified E477 polymorphism and one novel W520 polymorphism were found among Turkish MPS IVA patients. PMID: 12442278
    19. Mutation 1374delT introduces premature termination of GALNS, causing mucopolysaccharidosis IVA. PMID: 12721840
    20. Ten novel mutations in GALNS in Italian Mucopolysaccharidosis IVA patients. PMID: 15241807
    21. 26 novel mutations within the GALNS gene are associated with mucopolysaccharidosis IVA. A genotype/phenotype correlation was defined in some mutations. PMID: 16287098
    22. GALNS mutations in six severe Mucopolysaccharidosis type IVA (MPS IVA) patients from four unrelated Tunisian families. PMID: 16378744
    23. effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase on degenerative joint disease in an animal model. PMID: 17544310
    24. In mucopolysaccharidosis IVA 'attenuated' mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure. PMID: 17876718
    25. modification of expression of the lysosomal sulfatases ASB and GALNS regulates the content of CSs. PMID: 18285341
    26. This paper focuses on the study of the GALNS gene and mRNAs in two severe forms of Morquio A patients' fibroblasts. PMID: 18710657
    27. Results describe the quantitative relationship between the mutant N-acetylgalactosamine-6-sulfatase and the occurrence of mucopolysaccharidosis IVA. PMID: 19373925
    28. Deficiency in N-acetylgalactosamine-6-sulfate sulfatase has an impact on the phenotypic properties of chondrocytes, resulting in the formation of cartilage that is more prone to degeneration. PMID: 19394256

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  • 相关疾病：
    Mucopolysaccharidosis 4A (MPS4A)
  • 亚细胞定位：
    Lysosome.
  • 蛋白家族：
    Sulfatase family
  • 数据库链接：

    HGNC: 4122

    OMIM: 253000

    KEGG: hsa:2588

    STRING: 9606.ENSP00000268695

    UniGene: Hs.271383