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  4. Recombinant Human Collagen alpha-2 (XI) chain (COL11A2), partial

Recombinant Human Collagen alpha-2 (XI) chain (COL11A2), partial

  • 中文名稱：
    Recombinant Human Collagen alpha-2(XI) chain(COL11A2) ,partial,Yeast
  • 貨號：
    CSB-YP005717HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Collagen alpha-2(XI) chain(COL11A2) ,partial,Yeast
  • 貨號：
    CSB-EP005717HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Collagen alpha-2(XI) chain(COL11A2) ,partial,Yeast
  • 貨號：
    CSB-EP005717HU-B
  • 規(guī)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 Collagen alpha-2(XI) chain(COL11A2) ,partial,Yeast
  • 貨號：
    CSB-BP005717HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Collagen alpha-2(XI) chain(COL11A2) ,partial,Yeast
  • 貨號：
    CSB-MP005717HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    COL11A2
  • Uniprot No.：
  • 別名：
    COBA2_HUMAN; COL11A2; Collagen alpha 2(XI); Collagen alpha-2(XI) chain; Collagen type XI alpha 2; Collagen XI a2; DAQB-79P13.8; DFNA13; DFNB53; FBCG2; HGNC:2187; HKE5; PARP; Pro a2 chain of collagen type XI; STL3
  • 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(chǎn)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.
  • 復(fù)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(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：
    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(chǎn)品評價

靶點詳情

  • 功能：
    May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
  • 基因功能參考文獻：
    1. that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis PMID: 28741447
    2. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
    3. Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein. PMID: 25633957
    4. A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome. PMID: 25780254
    5. Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees. PMID: 22796475
    6. These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2 PMID: 22246659
    7. The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified. PMID: 22112025
    8. four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2. PMID: 21293383
    9. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. PMID: 21204229
    10. individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions PMID: 20618517
    11. differential regulation by EWS/ERG sarcoma fusion protein and wild-type ERG PMID: 12554743
    12. Mutation in the COL11A2 gene was found in all affected individuals, which lends molecular support to the clinical notion that autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) and otospondylomegaepiphyseal dysplasia (OSMED)are a single entity. PMID: 15558753
    13. mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases PMID: 16033917
    14. COL11A2 transcription is regulated by Sp1 proteins and by binding to its proximal promoter PMID: 16734381
    15. diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. PMID: 18381781

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  • 相關(guān)疾病：
    Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA); Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB); Deafness, autosomal dominant, 13 (DFNA13); Deafness, autosomal recessive, 53 (DFNB53); Fibrochondrogenesis 2 (FBCG2)
  • 亞細胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Fibrillar collagen family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 2187

    OMIM: 120290

    KEGG: hsa:1302

    UniGene: Hs.390171