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

  1. 首頁
  2. 蛋白
  3. 重組蛋白
  4. Recombinant Human EF-hand domain-containing protein 1 (EFHC1)

Recombinant Human EF-hand domain-containing protein 1 (EFHC1)

  • 中文名稱：
    人EFHC1重組蛋白
  • 貨號：
    CSB-YP708490HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人EFHC1重組蛋白
  • 貨號：
    CSB-EP708490HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人EFHC1重組蛋白
  • 貨號：
    CSB-EP708490HU-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：
    人EFHC1重組蛋白
  • 貨號：
    CSB-BP708490HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人EFHC1重組蛋白
  • 貨號：
    CSB-MP708490HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    EFHC1
  • Uniprot No.：
  • 別名：
    EF hand domain (C terminal) containing 1 ; EF hand domain containing protein 1; EF-hand domain-containing protein 1; Efhc1; EFHC1_HUMAN; EJA1; EJM1; FLJ10466; FLJ37290; JAE; Myoclonin 1; Myoclonin-1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    full length protein
  • 表達區域：
    1-640
  • 氨基酸序列
    MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV RRPTVGIGGD RLQFNQLSQA ELDELASKAP VLTYGQPKQA PPADFIPAHV AFDKKVLKFD AYFQEDVPMS TEEQYRIRQV NIYYYLEDDS MSVIEPVVEN SGILQGKLIK RQRLAKNDRG DHYHWKDLNR GINITIYGKT FRVVDCDQFT QVFLESQGIE LNPPEKMALD PYTELRKQPL RKYVTPSDFD QLKQFLTFDK QVLRFYAIWD DTDSMYGECR TYIIHYYLMD DTVEIREVHE RNDGRDPFPL LMNRQRVPKV LVENAKNFPQ CVLEISDQEV LEWYTAKDFI VGKSLTILGR TFFIYDCDPF TRRYYKEKFG ITDLPRIDVS KREPPPVKQE LPPYNGFGLV EDSAQNCFAL IPKAPKKDVI KMLVNDNKVL RYLAVLESPI PEDKDRRFVF SYFLATDMIS IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD NPVYYGPSDF FIGAVIEVFG HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA PAPEAESKQT EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN
  • 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：
    Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death.
  • 基因功能參考文獻：
    1. EFHC1 mutations cause microtubule-associated defects in juvenile myoclonic epilepsy PMID: 28370826
    2. NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of juvenile myoclonic epilepsy PMID: 27467453
    3. some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy PMID: 25489633
    4. Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy. PMID: 23756480
    5. These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established. PMID: 22926142
    6. we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients. PMID: 22727576
    7. homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy PMID: 22690745
    8. The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. PMID: 22226147
    9. Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals PMID: 15258581
    10. The combination of these polymorphisms could not be found in any control individuals, suggesting that they might be involved in genetic predisposition to migraine in this family. PMID: 16378686
    11. Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division. PMID: 16824517
    12. We found no evidence that EFHC1 is a major genetic risk factor for JME susceptibility in Dutch patients. PMID: 17054699
    13. Mutations in the EFHC1 gene may underlie different types of epilepsy syndromes. PMID: 17159113
    14. report presents one novel and one previously described mutation in the EFHC1 gene in Italian families, reinforcing the role of this gene in juvenile myoclonic epilepsy PMID: 17634063
    15. In this case of juvenile myoclonic epilepsy, A molecular genetic analysis led to the identification of a polymorphism (A-->G) in position 10 in the intron 3 (rs949626) of the EFHC1 gene. PMID: 17972043
    16. Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1 PMID: 18505993
    17. Under reducing condition Ca(2+) or Mg(2+) ions bind to EFHC1C in a 1/1 molar ratio, while under oxidizing condition this ratio is reduced, showing that EFHC1C dimerization blocks Ca(2+) and Mg(2+) binding PMID: 18593566
    18. The results of this study show that four coding SNPs, rs3804506, rs3804505, rs1266787, and rs17851770, of EFHC1 may not be susceptibility alleles for juvenile myoclonic epilepsy. PMID: 18823326

    顯示更多

    收起更多

  • 相關疾病：
    Juvenile myoclonic epilepsy 1 (EJM1); Juvenile absence epilepsy 1 (JAE1)
  • 亞細胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole.
  • 組織特異性：
    Widely expressed. Not detected in lymphocytes.
  • 數據庫鏈接：

    HGNC: 16406

    OMIM: 254770

    KEGG: hsa:114327

    STRING: 9606.ENSP00000360107

    UniGene: Hs.403171



主站蜘蛛池模板： 亚洲国产午夜精品理论片在线播放| 午夜福制92视频| 性男女做视频观看网站| 性色欲情网站iwww九文堂| 把插八插露脸对白内射| 午夜精品久久久久久毛片| 久久久久国产一区二区| 午夜私人成年影院在线观看| 久久精品人人做人人爱爱漫画| 日本亚洲欧洲无免费码在线| 337p粉嫩日本欧洲亚洲大胆| 亚洲高清专区日韩精品| 亚洲人成人无码网www电影首页| 国产婷婷色一区二区三区| 欧美亚洲一区二区三区| 伊人久久丁香色婷婷啪啪| 亚洲中文在线精品国产| 久久综合精品国产二区无码| 又色又污又爽又黄的网站| 国内揄拍国内精品对白| 精品亚洲成av人在线观看| 中字幕视频在线永久在线观看免费| 久久久久欧美精品| 国产成人综合95精品视频| 高清乱码一区二区三区| 女人被狂躁的高潮免费视频 | 无码一区二区三区中文字幕| 无码少妇一区二区三区浪潮av| 丰满少妇高潮惨叫久久久| 日韩精品久久无码中文字幕| 黑人巨茎大战欧美白妇| 任我爽精品视频在线观看| av制服丝袜白丝国产网站| 久久久久无码国产精品一区 | 暖暖 免费 高清 日本 在线 | 国产亚洲精品一区在线播放| 国产精品无码一区二区三区在| 国产免费久久久久久无码| 亚洲日韩日本中文在线| 欧美 日韩版国产在线播放| 久久婷婷色综合一区二区|