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  4. Recombinant Human Carbohydrate sulfotransferase 6 (CHST6), partial

Recombinant Human Carbohydrate sulfotransferase 6 (CHST6), partial

  • 中文名稱：
    Recombinant Human Carbohydrate sulfotransferase 6(CHST6),partial
  • 貨號：
    CSB-YP884425HU
  • 說明書：
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Carbohydrate sulfotransferase 6(CHST6),partial
  • 貨號：
    CSB-EP884425HU
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Carbohydrate sulfotransferase 6(CHST6),partial
  • 貨號：
    CSB-EP884425HU-B
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    Recombinant Human Carbohydrate sulfotransferase 6(CHST6),partial
  • 貨號：
    CSB-BP884425HU
  • 說明書：
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Carbohydrate sulfotransferase 6(CHST6),partial
  • 貨號：
    CSB-MP884425HU
  • 說明書：
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    CHST6
  • Uniprot No.：
  • 別名：
    C GlcNAc6ST; C-GlcNAc6ST; Carbohydate sulfotransferase 6; Carbohydrate (N acetylglucosamine 6 O) sulfotransferase 6; Carbohydrate sulfotransferase 6; CHST6; CHST6_HUMAN; Corneal GlcNAc6-sulfotransferase; Corneal N acetylglucosamine 6 sulfotransferase; Corneal N-acetylglucosamine-6-O-sulfotransferase; Galactose N acetylglucosamine N acetylglucosamine 6 O sulfotransferase 4 beta; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta; GlcNAc6ST 5; GlcNAc6ST-5; Gn6st-5; GST4 beta; GST4-beta; hCGn6ST; N-acetylglucosamine 6-O-sulfotransferase 5
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    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.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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 ：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency. Involved in sulfation of endothelial mucins such as GLYCAM1.
  • 基因功能參考文獻：
    1. This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies. PMID: 27829782
    2. E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy. PMID: 27439461
    3. Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy. PMID: 26604660
    4. Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys). PMID: 25081284
    5. This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy. PMID: 24311932
    6. Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis. PMID: 24926691
    7. This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes. PMID: 24801599
    8. Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity. PMID: 22261655
    9. analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies PMID: 21887843
    10. CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2. PMID: 21242781
    11. CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients. PMID: 20539220
    12. Novel mutations are thought to result in loss of corneal sulfotransferase function. PMID: 11818380
    13. patients with MCD (macular corneal dystrophy) combined with those reported in previous studies indicated CHST6 mutational heterogeneity. PMID: 12824236
    14. Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy. PMID: 12882769
    15. Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy. PMID: 12882775
    16. novel frameshift and compound heterozygous mutations might be responsible for macular corneal dystrophy PMID: 12883341
    17. Mutations in the coding region of the CHST6 gene are associated with type I MCD (macular corneal dystrophy) in a cohort of patients in southern India. PMID: 14609920
    18. We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy) PMID: 14735064
    19. mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States. PMID: 15013869
    20. the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention. PMID: 15220337
    21. These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD (macular corneal dystrophy) phenotype. PMID: 15652851
    22. These findings indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II. PMID: 15953452
    23. Twenty-six different mutations of the CHST6 gene in macular corneal dystrophy in India were identified, of which 14 mutations are novel. PMID: 16207214
    24. CHST6 mutations are cardinal to the pathogenesis of macular corneal dystrophy(MCD). MCD may result from other subtle changes in CHST6 or from genetic heterogeneity. PMID: 16568029
    25. Homozygous p.A128V mutation in CHST6 gene and compound heterozygote for p.A128V and frameshift p.V6fs resulting from 10-base pair insertion in macular corneal dystrophy(MCD)I. Compound heterozygotes for p.A128V and p.V329L in MCD II. PMID: 17093400
    26. In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. PMID: 17846354
    27. Novel homozygous missense mutation involving a highly conserved amino acid (c.518T > C; Leu173Pro). PMID: 17896316
    28. study describes four CHST6 missense mutations present in seven of eight Czech macular corneal dystrophy (MCD) families of which the c.494G>A (p.C165Y) was novel; findings support a common founder effect for MCD in the Czech Republic PMID: 17962390
    29. Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype. PMID: 18500531
    30. GlcNAc6ST-1 transcription is coordinated with the NF-kappaB/GATA-3 axis, which is known to figure heavily in Th2 cell differentiation PMID: 18849568
    31. in macular corneal dystrophy (MCD) patients, there were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD PMID: 19204788
    32. study identified seven novel and three previously reported CHST6 mutations in our panel consisting of 20 Iranian macular corneal dystrophy patients from 12 families PMID: 19223992
    33. The novel compound heterozygous mutations may contribute to the loss of CHST6 function, which induced the abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma. PMID: 19365571

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  • 相關疾病：
    Macular dystrophy, corneal (MCD)
  • 亞細胞定位：
    Golgi apparatus membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Sulfotransferase 1 family, Gal/GlcNAc/GalNAc subfamily
  • 組織特異性：
    Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.
  • 數據庫鏈接：

    HGNC: 6938

    OMIM: 217800

    KEGG: hsa:4166

    STRING: 9606.ENSP00000328983

    UniGene: Hs.655622



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