在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

COL6A2 Antibody

  • 中文名稱:
    COL6A2兔多克隆抗體
  • 貨號:
    CSB-PA007090
  • 規格:
    ¥1090
  • 圖片:
    • Western Blot analysis of K562 cells using COL6A2 Polyclonal Antibody
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    CO6A2_HUMAN antibody; COL6A2 antibody; Collagen alpha 2(VI) chain antibody; Collagen alpha-2(VI) chain antibody; collagen type VI alpha 2 antibody; Collagen VI alpha 2 polypeptide antibody; human mRNA for collagen VI alpha 2 C terminal globular domain antibody; PP3610 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Monkey
  • 免疫原:
    Synthesized peptide derived from the Internal region of Human COL6A2.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    WB, IHC, IF, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    IF 1:200-1:1000
    ELISA 1:10000
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Collagen VI acts as a cell-binding protein.
  • 基因功能參考文獻:
    1. binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. PMID: 26944560
    2. Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients. PMID: 27563703
    3. Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy. PMID: 25533456
    4. In UCMD, 8 mutations were identified in COL6A2 in Chinese patients. PMID: 24801232
    5. COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages. PMID: 23452080
    6. Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (Progressive Myoclonus Epilepsy) in this family. PMID: 23138527
    7. A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient. PMID: 20302629
    8. the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy PMID: 20106987
    9. The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity. PMID: 19698785
    10. the C-terminal globular domain of COL6A2 is not essential for triple-helix formation but is critical for microfibrillar assembly in Ullrich congenital muscular dystrophy PMID: 12218063
    11. A case of Ullrich disease is associated with complete deficiency of collagen VI and compound heterozygous mutations in the collagen VI alpha 2 gene with absence of microfibrils on electron microscopy. PMID: 12297580
    12. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene. PMID: 12374585
    13. In Ullrich syndrome, a heterozygous G-to-A substitution at position +5 in intron 23 & the corresponding heterozygous 6-bp deletion in exon 26 which deleted 1 of the 2 tandem repeats of the sequence CATCGG in nt 2268-2273 & 2274-2279 in COL6A2 ORF. PMID: 14981181
    14. diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient PMID: 16075202
    15. This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
    16. Results describe the characteristic features of myosclerosis myopathy with a homozygous collagen type 6A2 mutation responsible for a peculiar pattern of collagen VI defects. PMID: 18852439

    顯示更多

    收起更多

  • 相關疾病:
    Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Myosclerosis autosomal recessive (MYOSAR)
  • 亞細胞定位:
    Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.
  • 蛋白家族:
    Type VI collagen family
  • 數據庫鏈接:

    HGNC: 2212

    OMIM: 120240

    KEGG: hsa:1292

    STRING: 9606.ENSP00000300527

    UniGene: Hs.420269



主站蜘蛛池模板: 久久久国产一区二区三区四区小说| 国产精品女视频一区二区| 制服 丝袜 人妻 专区一本| 亚洲国产aⅴ成人精品无吗| 中文字幕三级人妻无码视频| 午夜131美女爱做视频| 亚洲综合在线一区二区三区| 激情综合色综合啪啪五月丁香| 久久国产精品无码hdav| 国产按头口爆吞精在线视频| 人妻体验按摩到忍不住哀求继续| 男男啪啪激烈高潮cc漫画免费| 国产yw8825免费观看网站| 国产成人亚洲精品无码车a | 国产精品www夜色视频| 中文字幕人妻被公上司喝醉在线 | 中年熟妇的大黑p| 无码av中文字幕免费放| 国产精品国产三级在线...| 亚洲日韩一区二区| 欧美性生 活18~19| 中文字幕在线亚洲二区| 色欲香天天综合网站| 后入内射无码人妻一区| 手机在线看片| 国产精品午夜爆乳美女视频| 久久99精品国产99久久6不卡| 女被男啪到哭的视频网站| 日产精品一区2区卡四卡二卡| 国产亚洲精品岁国产微拍精品 | 亚洲精品综合一区二区| 国产美女遭强高潮网站观看| 国产一区二区三区不卡av| 艳妇臀荡乳欲伦交换在线播放| 日产精品卡1卡2卡三卡在线| 亚洲人亚洲人成电影网站色| 丰满人妻妇伦又伦精品国产| 日本在线看片免费人成视频| 日产精品卡2卡三卡乱码网址| 久久99精品久久久大学生| 国产亚洲精品a在线|