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 Ribitol-5-phosphate transferase FKTN (FKTN)

Recombinant Human Ribitol-5-phosphate transferase FKTN (FKTN)

  • 中文名稱：
    人FKTN重組蛋白
  • 貨號：
    CSB-CF008709HU
  • 規格：
    ￥9720
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產品詳情

  • 純度：
    Greater than 85% as determined by SDS-PAGE.
  • 基因名：
    FKTN
  • Uniprot No.：
  • 別名：
    FKTN; FCMD; Fukutin; Fukuyama-type congenital muscular dystrophy protein; Ribitol-5-phosphate transferase
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length
  • 來源：
    in vitro E.coli expression system
  • 分子量：
    56.5 kDa
  • 表達區域：
    1-461aa
  • 氨基酸序列
    MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽：
    N-terminal 10xHis-tagged
  • 產品提供形式：
    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.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 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°C/-80°C. 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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 功能：
    Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1. Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development (Probable).
  • 基因功能參考文獻：
    1. The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons. PMID: 29416295
    2. ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. PMID: 27194101
    3. the mutated fukutin protein was smaller than the normal protein, reflecting the truncation of fukutin due to a premature stop codon. Immunostaining analysis showed a decrease in the signal for the glycosylated form of alpha-dystroglycan. These findings indicated that this mutation is the second most prevalent loss-of-function mutation in Japanese Fukuyama congenital muscular dystrophy patients. PMID: 28680109
    4. Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. PMID: 29477842
    5. Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. PMID: 26923585
    6. Fukutin role in in tumor progression in gastric cancer PMID: 26223471
    7. Mutation in the fukutin gene is associated with Fukuyama congenital muscular dystrophy and microcephaly. PMID: 24530477
    8. four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy PMID: 20961758
    9. FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea PMID: 20620061
    10. In Fukuyama congenital muscular dystrophy (FCMD) cases, expression of fukutin looked decreased. PMID: 12172906
    11. Fukutin is associated with Walker-Warburg syndrome. PMID: 14627679
    12. Data suggest that fukutin and fukutin-related protein (FKRP) may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis. PMID: 15213246
    13. Fukutin seems to bind to both the hypoglycosylated and fully glycosylated form of alpha-dystroglycan, and seems bind to the core area rather than the sugar chain of alpha-dystroglycan PMID: 17005282
    14. Walker-Warburg syndrome carries a homozygous-single nucleotide insertion that produces a frameshift, or 2 mutations, a point mutation that produces an amino acid substitution, & deletion in 3'UTR that affects the polyadenylation signal of fukutin gene. PMID: 18177472
    15. FCMD mutations are a more common cause of Walker-Warburg syndrome outside of the Middle East. PMID: 18752264
    16. The homozygous nonsense mutations within the coding region identified in Turkish patients are predicted to cause a total loss of fukutin activity and are likely to produce a more severe phenotype which closely resembles WWS. PMID: 18834683
    17. The compound heterozygous FKTN mutation was a rare cause of dilated cardiomyopathy. Hyper-CKemia might be indicative of FKTN mutation in dilated cardiomyopathy. PMID: 19015585
    18. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP. PMID: 19179078
    19. an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults PMID: 19266496
    20. Our results provide further evidence for ethnic and allelic heterogeneity and the presence of milder phenotypes in FKTN-dystroglycanopathy despite a substantial degree of alpha-dystroglycan hypoglycosylation in skeletal muscle. PMID: 19342235
    21. We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced alpha-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement. PMID: 19396839

    顯示更多

    收起更多

  • 相關疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4); Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4); Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4); Cardiomyopathy, dilated 1X (CMD1X)
  • 亞細胞定位：
    Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm. Nucleus.
  • 蛋白家族：
    LicD transferase family
  • 組織特異性：
    Expressed in the retina (at protein level). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain. Expressed in migrating neurons, including Cajar-Retzius cells
  • 數據庫鏈接：

    HGNC: 3622

    OMIM: 253800

    KEGG: hsa:2218

    STRING: 9606.ENSP00000223528

    UniGene: Hs.55777



主站蜘蛛池模板： 性av无码天堂vr专区| 永久免费的啪啪网站免费观看| 日本熟妇hdsex视频| 亚洲精品成人网站在线| 色插图午夜影院| 国产亲子乱弄免费视频| 中文无码高潮到痉挛在线视频| 护士奶头又大又软又好摸| 一二区成人影院电影网| 色欲久久久天天天综合网| 小荡货奶真大水多好紧视频 | 欧美变态另类xxxx| 精品一区二区三区影院在线午夜| 精品一卡2卡三卡4卡免费网站| 一本色道无码不卡在线观看| 水蜜桃av无码一区二区| 97se狼狼狼狼狼亚洲网| 国产日韩av在线播放| 99久久久无码国产精品性| 亚洲午夜无码极品久久| 国产精品av一区二区三区不卡蜜 | 9九色桋品熟女内射| 亚洲精品无码成人片久久| 午夜不卡无码中文字幕影院| 艳妇乳肉豪妇荡乳| 久久久久国产精品人妻aⅴ毛片| 亚洲午夜成人精品无码| 亚洲国产av美女网站| 激情毛片无码专区| 久久66热人妻偷产精品| 永久免费观看国产裸体美女 | 中文人妻av久久人妻18| 色六月婷婷亚洲婷婷六月| 四虎av永久在线精品免费观看| 国产精品无码无需播放器| 极品无码av国模在线观看| 久久久久国色av免费观看| 女人高潮被爽到呻吟在线观看| 亚洲和欧洲一码二码区别7777| 嫩草国产福利视频一区二区| 久久不见久久见免费影院www |