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

KCNV2 Antibody

  • 中文名稱:
    KCNV2兔多克隆抗體
  • 貨號:
    CSB-PA681990
  • 規(guī)格:
    ¥1090
  • 圖片:
    • Western blot analysis of 1) Rat Brain Tissue, 2)Mouse Brain Tissue with KV11.1 Rabbit pAb diluted at 1:2,000.
    • Immunohistochemical analysis of paraffin-embedded Mouse BrainTissue using Kv11.1 Rabbit pAb diluted at 1:200.
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
    KCNV2
  • 別名:
    KCNV2; Potassium voltage-gated channel subfamily V member 2; Voltage-gated potassium channel subunit Kv8.2
  • 宿主:
    Rabbit
  • 反應種屬:
    Rat,Mouse
  • 免疫原:
    Synthetic Peptide
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using 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(chǎn)品提供形式:
    Liquid
  • 應用范圍:
    WB, IHC, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:1000-2000
    IHC 1:100-200
  • 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(chǎn)品評價

靶點詳情

  • 功能:
    Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
  • 基因功能參考文獻:
    1. Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. PMID: 28658141
    2. The 2 mutations identified are novel and thus expand the current knowledge of Retinal Cone Dystrophy 3B genotype-phenotype descriptions in the literature. PMID: 24029832
    3. This is the first report of genetic and clinical analysis of cone dystrophy with supernormal rod response in the Israeli population leading to the identification of 4 novel KCNV2 mutations. PMID: 23725738
    4. Compound heterozygosity for the two alleles of KCNV2, p.C177R and p.G461R, in three patients, and homozygosity for complex alleles, p.R27H and p.R206P, in one patient from the consanguineous family, is reported. PMID: 23885164
    5. Central vision parameters progressively worsen in KCNV2 cone dystrophy, structural retinal and lipofuscin accumulation abnormalities are commonly present and macular cone photoreceptor mosaic is markedly disrupted early in the disease. PMID: 23221069
    6. KCNV2 mutations cause a unique form of retinal disorder illustrating the importance of K(+)-channels for the resting potential, activation and deactivation of photoreceptors, while phototransduction remains unchanged PMID: 23077521
    7. important finding leading to identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern of findings on full field ERGs. PMID: 23143909
    8. two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels PMID: 23115240
    9. For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations PMID: 21900228
    10. In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunctino. PMID: 21882291
    11. In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT even in the early stages of disease. PMID: 21558291
    12. Early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene presented nystagmus, increased light sensitivity, reduced color discrimination, and relative central scotomas. PMID: 21911584
    13. Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene. PMID: 21402906
    14. Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. PMID: 19952985
    15. Mutations mapped to KCNV2 are responsible for cone dystrophy with supernormal rod electoretinogram. PMID: 16909397
    16. KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod electroretinography. We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. PMID: 17896311
    17. The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2. PMID: 18235024
    18. The three novel truncative mutations are likely to be null mutations leading to loss of function, with no difference in the phenotype presentation. PMID: 18400204
    19. Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. PMID: 18708743

    顯示更多

    收起更多

  • 相關疾病:
    Cone dystrophy retinal 3B (RCD3B)
  • 亞細胞定位:
    Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.
  • 蛋白家族:
    Potassium channel family, V (TC 1.A.1.2) subfamily, Kv8.2/KCNV2 sub-subfamily
  • 組織特異性:
    Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.
  • 數(shù)據(jù)庫鏈接:

    HGNC: 19698

    OMIM: 607604

    KEGG: hsa:169522

    STRING: 9606.ENSP00000371514

    UniGene: Hs.622675



主站蜘蛛池模板: 青青草国产免费久久久| 国产综合视频一区二区三区| 国产做爰xxxⅹ久久久小说| 任我爽精品视频在线观看| 宅宅午夜无码一区二区三区| 加勒比中文无码久久综合色 | 国产亚洲精品电影网站在线观看 | 国产亚洲欧美日韩俺去了| 久久国产精品无码网站| 日本猛少妇色xxxxx猛叫| 午夜福利理论片在线观看播放| 国产精品久久久久野外| 欧美国产日韩a在线视频| 中文乱码免费一区二区| 2019久久视频这里有精品15| 国产理论剧情大片在线播放| 日韩不卡1卡2卡三卡2021精品推荐 | 伊人久久大香线蕉av最新| 国产精品96久久久久久av网址| 亚洲开心婷婷中文字幕| 国产激情高中生呻吟视频 | 精品无码av不卡一区二区三区| 免费无码成人av在线播| 久久国产偷任你爽任你| 骚动漫十八禁在线观看| 亚洲狠狠婷婷综合久久久久图片| 麻豆成人av不卡一二三区| 欧美另类精品xxxx| 精品香蕉一区二区三区| 久久久精品中文字幕麻豆发布| 成人免费看黄网站yyy456| 无遮挡十八禁污污网站免费 | 久久久无码精品亚洲日韩按摩| 国产92成人精品视频免费 | 免费无码av片在线观看潮喷| 97国产超碰一区二区三区| 中文字幕人妻偷伦在线视频| 牲交欧美兽交欧美| 国产精品白浆无码流出| 日本少妇被黑人xxxxx| 日本熟妇人妻xxxxx人hd|