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  4. Recombinant Human Collagen alpha-1 (XXVII) chain (COL27A1), partial

Recombinant Human Collagen alpha-1 (XXVII) chain (COL27A1), partial

  • 中文名称：
    Recombinant Human Collagen alpha-1(XXVII) chain(COL27A1) ,partial
  • 货号：
    CSB-YP815589HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Collagen alpha-1(XXVII) chain(COL27A1) ,partial
  • 货号：
    CSB-EP815589HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Collagen alpha-1(XXVII) chain(COL27A1) ,partial
  • 货号：
    CSB-EP815589HU-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：
    Recombinant Human Collagen alpha-1(XXVII) chain(COL27A1) ,partial
  • 货号：
    CSB-BP815589HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Collagen alpha-1(XXVII) chain(COL27A1) ,partial
  • 货号：
    CSB-MP815589HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    COL27A1
  • Uniprot No.：
    Q8IZC6
  • 别名：
    COL27A1; KIAA1870Collagen alpha-1(XXVII) chain
  • 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 role during the calcification of cartilage and the transition of cartilage to bone.
  • 基因功能参考文献：
    1. Our report further validates the role of COL27A1 mutations in causation of Steel syndrome. PMID: 28276056
    2. we conclude that the novel splice-site variant identified in COL27A1 is the most likely cause for Steel syndrome in this family and that the hearing loss is part of this syndrome's phenotype PMID: 28322503
    3. Genetic analysis between COL27A1 and Tourette syndrome was performed. PMID: 26235311
    4. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population PMID: 24986830
    5. The results of this study found in rs7868992 on chromosome 9q32 within COL27A1 is releate to Tourette's syndrome. PMID: 22889924
    6. This study further implicates the genomic region containing the TNC and COL27A1 genes in influencing risk of Achilles tendinopathy, and maps the potential risk allele to a genetic interval flanked by rs946053 and rs2104772. PMID: 23192621
    7. type XXVII collagen has unusual molecular features such as no minor helical domain, a major helical domain that is short and interrupted, and a short chain selection sequence within the NC1 domain PMID: 12766169
    8. SOX9 may play an important role in the transcriptional activation of the newest collagen gene, COL27A1. PMID: 15922909

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  • 相关疾病：
    Steel syndrome (STLS)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Fibrillar collagen family
  • 数据库链接：

    HGNC: 22986

    OMIM: 608461

    KEGG: hsa:85301

    STRING: 9606.ENSP00000348385

    UniGene: Hs.494892

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