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

EVC Antibody, Biotin conjugated

  • 中文名稱:
    EVC兔多克隆抗體, Biotin偶聯(lián)
  • 貨號(hào):
    CSB-PA007862LD01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) EVC Polyclonal antibody
  • Uniprot No.:
  • 基因名:
  • 別名:
    EVCEllis-van Creveld syndrome protein antibody; DWF-1 antibody
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human Ellis-van Creveld syndrome protein (493-602AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    Biotin
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA
  • Protocols:
  • 儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.
  • 基因功能參考文獻(xiàn):
    1. the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. PMID: 29321360
    2. The molecular mechanism underlying the development of ventricular septal defect induced by the EVC c.343C>G mutation may be due to a reduction in the anti-apoptotic and proliferative abilities of cardiomyocytes via downregulation of Hh pathway activity. PMID: 29257216
    3. Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. PMID: 29229899
    4. we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. PMID: 26748586
    5. sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. PMID: 26580685
    6. Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. PMID: 26621368
    7. The epigenetically deregulated EVC appears to play an important role for hedgehog activation. PMID: 24996003
    8. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. PMID: 21199751
    9. We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene PMID: 19744229
    10. STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. PMID: 20087401
    11. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. PMID: 19810119
    12. CRMP1 and EVC genes are located near WFS1, the Wolfram syndrome type 1 gene. PMID: 15492864
    13. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected PMID: 18454448
    14. EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical Ellis van Creveld syndrome PMID: 18947413
    15. EVC and LBN play roles in cardiovascular development and disease. PMID: 19251731

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Ellis-van Creveld syndrome (EVC); Acrofacial dysostosis, Weyers type (WAD)
  • 亞細(xì)胞定位:
    Cell membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane.
  • 組織特異性:
    Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 3497

    OMIM: 193530

    KEGG: hsa:2121

    STRING: 9606.ENSP00000264956

    UniGene: Hs.646899



主站蜘蛛池模板: 国内少妇偷人精品视频| 又大又粗又爽18禁免费看| 色8激情欧美成人久久综合电影| 中文人妻av大区中文不卡| 精品人妻二区中文字幕| 18禁美女裸体免费网站| 亚洲国产一卡2卡3卡4卡5公司| 熟女俱乐部五十路六十路| 少妇无码av无码专区| 亚洲午夜av久久久精品影院| 亚洲337少妇裸体艺术| 青椒国产97在线熟女| 极品人妻videosss人妻| 成年女人18级毛片毛片免费| 国产精品综合一区二区三区| 99久久精品费精品国产一区二| 巨人精品福利官方导航| 水蜜桃av无码| 中文字幕无码专区人妻系列| 免费无码又爽又刺激高潮的app| 苍井空浴缸大战猛男120分钟| 久久久亚洲精品无码| 在线观看的av免费网站| 激情内射亚洲一区二区三区| 曰韩无码av片免费播放不卡| 2019久久视频这里有精品15| 白丝爆浆18禁一区二区三区| 99国产精品99久久久久久| 国产色诱视频在线观看| 97久久超碰成人精品网站| 99国产精品久久久久久久成人热| 韩国精品一区二区三区四区 | 亚洲大码熟女在线| 成人无码www免费视频| 无码熟熟妇丰满人妻啪啪| 国产成人精品高清在线观看93| 亚洲精品色午夜无码专区日韩| 人妻免费一区二区三区最新| 羞涩的丰满人妻40p| 国产黑色丝袜在线视频| 乱中年女人伦av一区二区|