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

OFD1 Antibody, Biotin conjugated

  • 中文名稱:
    OFD1兔多克隆抗體, Biotin偶聯
  • 貨號:
    CSB-PA016289LD01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) OFD1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    OFD1
  • 別名:
    71 7A antibody; 717A antibody; CXorf5 antibody; JBTS10 antibody; Ofd1 antibody; OFD1_HUMAN antibody; oral facial digital syndrome 1 antibody; Oral-facial-digital syndrome 1 protein antibody; OTTHUMP00000022941 antibody; Protein 71-7A antibody; RGD1562231 antibody; SGBS2 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Oral-facial-digital syndrome 1 protein (598-771AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Biotin
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA
  • 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.

產品評價

靶點詳情

  • 功能:
    Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation.
  • 基因功能參考文獻:
    1. The authors demonstrate that OFD1 cooperates with the mRNA binding protein Bicc1 to functionally control the protein synthesis machinery at the centrosome where also the PIC and eIF4F components were shown to localize in mammalian cells. PMID: 28450740
    2. In our study, we identified a novel OFD1 mutation c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with phenotypes of JBTS. The de-novo OFD1 mutation in exon 21 of OFD1 results in a frameshift and a substitution of Arg to Lys at the 948th amino-acid residue, generating a prematurely truncated protein. PMID: 28505061
    3. Loss of OFD1 expression is associated with Oral-facial-digital syndrome type I. PMID: 27798113
    4. The underlying pathogenesis of CHD in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development. PMID: 28371265
    5. polycystins are necessary for assembly of a novel flotillin-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations. PMID: 25180832
    6. OFD1 regulation and primary cilium formation are defective in autophagy-deficient cells PMID: 24343661
    7. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. PMID: 24691443
    8. Novel OFD1 mutations have been identified in males with orofaciodigital syndromes and ciliary basal body docking impairment. PMID: 23036093
    9. Identification of a causative splicing mutation in OFD1, through exome sequencing, in a family with three males having an 'unclassified' X-linked lethal congenital malformation syndrome. PMID: 22548404
    10. Data indicate that although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patient. PMID: 23033313
    11. Deep intronic mutation in OFD1 causes a severe form of X-linked retinitis pigmentosa. PMID: 22619378
    12. Sequence deletion in OFD1 has been identified as the cause of X-linked Joubert syndrome. PMID: 22353940
    13. A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in proband, her mother, and her sister. All 3 women had similar oral phenotype; new mutation might be involved in development of OFD1 oral manifestations. PMID: 21729220
    14. Documentation of OFD I mutations, extreme beading of the intrahepatic bile ducts and pancreatic cysts of patients having hepatic, pancreatic, and renal cystic disease. PMID: 20818665
    15. Ofd1 acts at the distal centriole to build distal appendages, recruit Ift88, and stabilize centriolar microtubules at a defined length. PMID: 20230748
    16. OFD1 plays a role in differentiation of metanephric precursor cells. PMID: 12595504
    17. demonstrated that OFD1 is conserved among vertebrates and absent in invertebrates; evolutionarily conserved domains in the protein were identified; nonfunctional OFD1 copies, organized in repeat units on the human Y chromosome, were identified PMID: 12782125
    18. These striking patterns of OFD1 localization within cells place the protein at key sites, where it may play roles not only in microtubule organization (centrosomal function) but also in mechanosensation of urine flow (a primary ciliary function). PMID: 15466260
    19. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. PMID: 16397067
    20. Study reports on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. PMID: 16783569
    21. OFD1 may be part of a multi-protein complex and could play different biological functions in the centrosome-primary cilium organelles as well as in the nuclear compartment PMID: 17761535
    22. exon 3 nucleotide change, 243C>G, leading to the missense mutation H81Q, [is] causative mutation [of] orofaciodigital I syndrome PMID: 18177199
    23. Six OFD1 genomic deletions (exon 5, exons 1-8, exons 1-14, exons 10-11, exons 13-23 and exon 17) were identified, accounting for 5% of OFDI patients and for 23% of patients with negative mutation screening by DNA sequencing. PMID: 19023858
    24. Odontoblasts in vitro express tubulin, inversin, rootletin, OFD1, BBS4, BBS6, ALMS1, KIF3A, PC1, and PC2. In vivo, cilia align parallel to dentin walls with top part oriented toward pulp core. Close relations between cilium and nerve fibers are found. PMID: 19783798
    25. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin PMID: 19800048

    顯示更多

    收起更多

  • 相關疾病:
    Orofaciodigital syndrome 1 (OFD1); Simpson-Golabi-Behmel syndrome 2 (SGBS2); Joubert syndrome 10 (JBTS10); Retinitis pigmentosa 23 (RP23)
  • 亞細胞定位:
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
  • 蛋白家族:
    OFD1 family
  • 組織特異性:
    Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb.
  • 數據庫鏈接:

    HGNC: 2567

    OMIM: 300170

    KEGG: hsa:8481

    STRING: 9606.ENSP00000344314

    UniGene: Hs.6483



主站蜘蛛池模板: 久久婷婷五月综合色d啪| 国产丰满麻豆videossexhd| 人人色在线视频播放| 丰满日韩放荡少妇无码视频 | 日本丰满人妻xxxxxhd| 狠狠躁天天躁中文字幕| 久久亚洲精品中文字幕| av无码天堂一区二区三区| 亚洲嫩模喷白浆在线观看| 中文人妻熟女乱又乱精品| 国产97在线 | 日韩| 亚洲精品成人网线在线播放va| 中文字幕av无码专区第一页| 国产成人一区二区三区| 美女裸体十八禁免费网站| 人妻熟女 视频二区 视频一区| 国产成人毛片在线视频软件| 欧美天天拍在线视频| 国产亚洲精品a在线观看下载| 乱色精品无码一区二区国产盗| 秋霞国产成人精品午夜视频app| 久久精品亚洲乱码伦伦中文| 国产真实的和子乱拍在线观看 | 欧美 亚洲 国产 制服 中文 | 国产真人做爰视频免费| 国产成年无码v片在线| 少妇挑战三个黑人惨叫4p国语| 97无码免费人妻超级碰碰夜夜| 亚洲乱亚洲乱妇无码麻豆 | 性生交大片免费看l| 亚洲综合最新无码专区| 69久久精品无码一区二区无码 | 亚洲中文久久精品无码照片| 精品免费国偷自产在线视频| 国产精品久久久久久久久久久免费看| 色婷婷美国农夫综合激情亚洲| 午夜高清在线无码| 青草草97久热精品视频| 亚洲成在人线在线播放无码| 国产激情久久久久影院老熟女免费| 精品日产卡一卡二卡麻豆|