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 Meckel syndrome type 1 protein (MKS1)

Recombinant Human Meckel syndrome type 1 protein (MKS1)

  • 中文名稱：
    人MKS1重組蛋白
  • 貨號：
    CSB-YP882132HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人MKS1重組蛋白
  • 貨號：
    CSB-EP882132HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人MKS1重組蛋白
  • 貨號：
    CSB-EP882132HU-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MKS1重組蛋白
  • 貨號：
    CSB-BP882132HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人MKS1重組蛋白
  • 貨號：
    CSB-MP882132HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    MKS1
  • Uniprot No.：
  • 別名：
    B8d3; BBS13; Dysencephalia splanchnocystica; FABB proteome like protein; FLJ20345; Gruber syndrome; Meckel gruber syndrome; Meckel gruber syndrome type 1; Meckel syndrome; Meckel syndrome type 1; Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; MES; MKS 1; MKS; Mks1; MKS1_HUMAN; POC12; POC12 centriolar protein homolog
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    full length protein
  • 表達區域：
    1-559
  • 氨基酸序列
    MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ EARESLPQDL VSPSGTLVS
  • 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：
    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
  • 基因功能參考文獻：
    1. we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1. PMID: 27570071
    2. Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans PMID: 27340223
    3. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content. PMID: 26490104
    4. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome PMID: 24886560
    5. identification of a gene, MKS1,(Meckel syndrome) mutated in MKS families linked to 17q. PMID: 16415886
    6. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. PMID: 17185389
    7. Study concluded that MKS1 and MKS3 account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3; cases with no, or milder, CNS phenotypes were only found in MKS3. PMID: 17377820
    8. genotyping of MKS1 & MKS3 genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations PMID: 17397051
    9. Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest splicing defects are a crucial mutational mechanism in MKS1, and further genetic heterogeneity for MKS. PMID: 17437276
    10. Mutations in MKS1 is associated with Bardet-Biedl syndrome PMID: 18327255
    11. MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins PMID: 19208769
    12. Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia. PMID: 19515853

    顯示更多

    收起更多

  • 相關疾病：
    Meckel syndrome 1 (MKS1); Bardet-Biedl syndrome 13 (BBS13); Joubert syndrome 28 (JBTS28)
  • 亞細胞定位：
    Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
  • 數據庫鏈接：

    HGNC: 7121

    OMIM: 249000

    KEGG: hsa:54903

    STRING: 9606.ENSP00000376827

    UniGene: Hs.408843



主站蜘蛛池模板： 国产偷国产偷亚洲清高app| 久久国产午夜精品理论片| 国产在线精品欧美日韩电影 | 人人妻人人澡人人爽人人dvd| 国产日韩av无码免费一区二区| 日产乱码一二三区别免费麻豆 | 亚洲乱码日产精品bd在| 99国精品午夜福利视频不卡| 国产人妻一区二区三区久| 在线看片无码永久av| 在线视频国产网址你懂的| 粗大黑人巨精大战欧美成人 | 青娱乐极品视觉盛宴av| 男插女高潮一区二区| 午夜激成人免费视频在线观看 | 男女性杂交内射女bbwxz| 亚洲中文字幕aⅴ无码天堂| 久久理论片午夜琪琪电影网 | 人妻无码专区一区二区三区 | 又大又黄又粗又爽的免费视频| а√天堂www在线а√天堂视频| 日本成a人片在线播放| 国产精品宾馆在线精品酒店 | 国产成人麻豆亚洲综合无码精品| 2017亚洲天堂最新地址| 亚洲欧美成人一区二区在线| 欧美丰满熟妇xxxx性ppx人交| 色老久久精品偷偷鲁| 午夜男女爽爽影院免费视频| 午夜福利av无码一区二区| 熟睡人妻被讨厌的公侵犯| 97视频精品全国免费观看| 久久久综综合色一本伊人| 国产一区二区三区乱码| 四虎国产精品永久免费网址| 久久久久久九九精品久| 日日鲁鲁鲁夜夜爽爽狠狠视频97| 日韩精品毛片无码一区到三区| 日本一区二区三区免费播放视频站| 久久国产色av免费观看| 成在线人免费视频一区二区|