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  4. Recombinant Human Potassium voltage-gated channel subfamily V member 2 (KCNV2)

Recombinant Human Potassium voltage-gated channel subfamily V member 2 (KCNV2)

  • 货号：
    CSB-CF848410HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    KCNV2
  • Uniprot No.：
  • 别名：
    KCNV2; Potassium voltage-gated channel subfamily V member 2; Voltage-gated potassium channel subunit Kv8.2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-545
  • 氨基酸序列
    MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDED GEEEDQWKDDLAEEDQQAGEVTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPK TRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQLVYNFYLSGVLLVLDGLCPRR FLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRP ILEHVEMLCMGFFTLEYLLRLASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGH QRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAFGFTLRQCYQQVGCLLLFIAM GIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLT PRQEN
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
  • 基因功能参考文献：
    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

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  • 相关疾病：
    Cone dystrophy retinal 3B (RCD3B)
  • 亚细胞定位：
    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
  • 组织特异性：
    Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.
  • 数据库链接：

    HGNC: 19698

    OMIM: 607604

    KEGG: hsa:169522

    STRING: 9606.ENSP00000371514

    UniGene: Hs.622675