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  4. Recombinant Human WD repeat-containing protein 72 (WDR72), partial

Recombinant Human WD repeat-containing protein 72 (WDR72), partial

  • 中文名称：
    人WDR72重组蛋白
  • 货号：
    CSB-YP662140HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人WDR72重组蛋白
  • 货号：
    CSB-EP662140HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人WDR72重组蛋白
  • 货号：
    CSB-EP662140HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 中文名称：
    人WDR72重组蛋白
  • 货号：
    CSB-BP662140HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人WDR72重组蛋白
  • 货号：
    CSB-MP662140HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    WDR72
  • Uniprot No.：
    Q3MJ13
  • 别名：
    AI2A3; FLJ38736; WD repeat-containing protein 72; WDR72; WDR72_HUMAN
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 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：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.
  • 基因功能参考文献：
    1. Based on whole exome sequencing in a large consanguineous amelogenesis imperfecta pedigree, an evidence for presence of a multi-exonic WDR72 deletion has been obtained. PMID: 27259663
    2. WDR72 has a major role in enamel mineralization, most notably during the maturation stage, suggesting a function involving endocytic vesicle trafficking, and the removal of amelogenin proteins. PMID: 25008349
    3. The rs11056571, p=1.68x10(-8); and rs2300290, p=1.09x10(-8)). rs719714 downstream of WDR72 was associated with executive functioning. PMID: 22126837
    4. Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth PMID: 21196691
    5. the 4 recently reported SNPs,located near BNC2, SORCS1, GSC and WDR72 loci, affecting glycemic control in type 1 diabetes had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1 SNP, findings do not rule out possible relationship with HbA1c PMID: 21294870
    6. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. WDR72 is a cytoplasmic protein that is critical for dental enamel formation. PMID: 20938048
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    8. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20383146
    9. investigation of autosomal-recessive hypomaturation amelogenesis imperfecta (AI) in a consanguineous Pakistani family; a locus on chromosome 15q21.3 was identified; sequencing revealed a point mutation in the WDR72 gene PMID: 19853237
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 19875614

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  • 相关疾病：
    Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3)
  • 亚细胞定位：
    Cytoplasmic vesicle.
  • 数据库链接：

    HGNC: 26790

    OMIM: 613211

    KEGG: hsa:256764

    STRING: 9606.ENSP00000353699

    UniGene: Hs.122125

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