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Recombinant Human Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (B3GAT3)

  • 中文名稱:
    Recombinant Human Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3(B3GAT3)
  • 貨號:
    CSB-CF002498HU
  • 規(guī)格:
  • 來源:
    in vitro E.coli expression system
  • 其他:

產(chǎn)品詳情

  • 基因名:
    B3GAT3
  • Uniprot No.:
  • 別名:
    B3GAT3; Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; Beta-1,3-glucuronyltransferase 3; Glucuronosyltransferase I; GlcAT-I; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; GlcUAT-I
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    full length protein
  • 表達區(qū)域:
    1-335
  • 氨基酸序列
    MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV
    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 10xHis-tagged
  • 產(chǎn)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.
  • 緩沖液:
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項:
    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

靶點詳情

  • 功能:
    Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation.
  • 基因功能參考文獻:
    1. We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome. PMID: 28771243
    2. Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart. PMID: 25893793
    3. Reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations. PMID: 21763480
    4. functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif PMID: 12794088
    5. we evaluated the consequences of C-4/C-6 sulfation of Galbeta1-3Gal (Gal2-Gal1) on the activity and specificity of beta1,3-glucuronosyltransferase I PMID: 15522873
    6. GlcAT-I has a role in controlling and reversing articular cartilage defects PMID: 15601778
    7. A comparison of substrate specificity of beta1,3-glucuronosyltransferases revealed that GlcAT-I was selective toward Galbeta1,3Gal, whereas GlcAT-P presented a broader profile. PMID: 17567734
    8. 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis PMID: 18400750

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  • 相關(guān)疾病:
    Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD)
  • 亞細胞定位:
    Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network.
  • 蛋白家族:
    Glycosyltransferase 43 family
  • 組織特異性:
    Ubiquitous (but weakly expressed in all tissues examined).
  • 數(shù)據(jù)庫鏈接:

    HGNC: 923

    OMIM: 245600

    KEGG: hsa:26229

    STRING: 9606.ENSP00000265471

    UniGene: Hs.502759



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