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  4. Recombinant Human Collagen alpha-2 (VIII) chain (COL8A2)

Recombinant Human Collagen alpha-2 (VIII) chain (COL8A2)

  • 中文名稱：
    Recombinant Human Collagen alpha-2(VIII) chain(COL8A2)
  • 貨號：
    CSB-YP005756HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Collagen alpha-2(VIII) chain(COL8A2)
  • 貨號：
    CSB-EP005756HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Collagen alpha-2(VIII) chain(COL8A2)
  • 貨號：
    CSB-EP005756HU-B
  • 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 Collagen alpha-2(VIII) chain(COL8A2)
  • 貨號：
    CSB-BP005756HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Collagen alpha-2(VIII) chain(COL8A2)
  • 貨號：
    CSB-MP005756HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    COL8A2
  • Uniprot No.：
  • 別名：
    COL8A2Collagen alpha-2(VIII) chain; Endothelial collagen
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區域：
    29-703
  • 氨基酸序列
    GG GAGGAAGYAP VKYIQPMQKG PVGPPFREGK GQYLEMPLPL LPMDLKGEPG PPGKPGPRGP PGPPGFPGKP GMGKPGLHGQ PGPAGPPGFS RMGKAGPPGL PGKVGPPGQP GLRGEPGIRG DQGLRGPPGP PGLPGPSGIT IPGKPGAQGV PGPPGFQGEP GPQGEPGPPG DRGLKGDNGV GQPGLPGAPG QGGAPGPPGL PGPAGLGKPG LDGLPGAPGD KGESGPPGVP GPRGEPGAVG PKGPPGVDGV GVPGAAGLPG PQGPSGAKGE PGTRGPPGLI GPTGYGMPGL PGPKGDRGPA GVPGLLGDRG EPGEDGEPGE QGPQGLGGPP GLPGSAGLPG RRGPPGPKGE AGPGGPPGVP GIRGDQGPSG LAGKPGVPGE RGLPGAHGPP GPTGPKGEPG FTGRPGGPGV AGALGQKGDL GLPGQPGLRG PSGIPGLQGP AGPIGPQGLP GLKGEPGLPG PPGEGRAGEP GTAGPTGPPG VPGSPGITGP PGPPGPPGPP GAPGAFDETG IAGLHLPNGG VEGAVLGKGG KPQFGLGELS AHATPAFTAV LTSPFPASGM PVKFDRTLYN GHSGYNPATG IFTCPVGGVY YFAYHVHVKG TNVWVALYKN NVPATYTYDE YKKGYLDQAS GGAVLQLRPN DQVWVQMPSD QANGLYSTEY IHSSFSGFLL CPT
  • 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
    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：
    Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.
  • 基因功能參考文獻：
    1. Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree. PMID: 27121161
    2. Peripheral, anterior microcystic corneal edema represents a characteristic aspect of the phenotype associated with the p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide. PMID: 26989952
    3. No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this Late-onset Fuchs endothelial corneal dystrophy (FECD) family. PMID: 25007886
    4. mutations in the COL8A2 gene do not contribute to all cases of early-onset early-onset Fuchs' endothelial corneal dystrophy . PMID: 23601356
    5. Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of African American cases and as such does not appear to significantly contribute to the genetic risk of Fuchs endothelial corneal dystrophy. PMID: 24348007
    6. Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with Eosionophilic esophagitis and inherited connective tissue disorders. PMID: 23608731
    7. Association of central corneal thickness with TCF4 was also significant (p = 6.1x10(-7)), but was abolished with adjustment for FECD grade (p = 0.92). PMID: 23110055
    8. Single nucleotide polymorphisms in COL8A2 gene is not associated with central corneal thickness in glaucoma. PMID: 22814818
    9. Report cellular model in which collagen VIII mutations, which clinically result in Fuchs' dystrophy, are associated with abnormal cellular accumulation of collagen VIII. PMID: 22020132
    10. These data constitute the first report of a heterozygous Q455V mutation of the COL8A2 gene in Korean patients with Fuchs' corneal dystrophy and Q455V may be the causative defect in the development and progression of Korean FECD patients. PMID: 18464802
    11. COL8A2, SLC4A11 genes may not be responsible for Fuchs endothelial corneal dystrophy in patients examined in this study. PMID: 20144242
    12. The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese Fuchs' endothelial corneal dystrophy and posterior polymorphous dystrophy patients examined in this study. PMID: 15175909
    13. No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. PMID: 15851557
    14. A novel pathogenic L450W COL8A2 mutation was identified and its highly distinctive pathology characterized. This indicates that COL8A2 mutations give rise to a rare subtype of FCD (Fuchs corneal dystrophy). PMID: 15914606
    15. Alpha2(VIII) collagen supported endothelial cell attachment in a dose-dependent manner, with an 18-fold higher affinity for endothelial cells. PMID: 16908762
    16. Microscopic and electron microscopic examination revealed pathological changes in Descemet's membrane of L450W COL8A2 mutants that were consistent with several-fold increased growth of the extracellular matrix. PMID: 17471329
    17. description of the phenotype of early-onset Fuchs' endothelial corneal dystrophy in a British family, which is caused by a point mutation (resulting in p.L450W substitution) in COL8A2 PMID: 18024822
    18. The previously reported mutations in the COL8A2 gene were not found in the 92 samples tested. PMID: 18502986

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  • 相關疾病：
    Corneal dystrophy, Fuchs endothelial, 1 (FECD1); Corneal dystrophy, posterior polymorphous, 2 (PPCD2)
  • 亞細胞定位：
    Secreted, extracellular space, extracellular matrix, basement membrane.
  • 組織特異性：
    Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve b
  • 數據庫鏈接：

    HGNC: 2216

    OMIM: 120252

    KEGG: hsa:1296

    STRING: 9606.ENSP00000305913

    UniGene: Hs.353001



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