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OFD1 Antibody

  • 货号：
    CSB-PA016289LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA016289LA01HU diluted at 1:100 and staining in paraffin-embedded human skeletal muscle tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at 37℃ Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-Mouse IgG labeled by HRP and visualized using 0.05% DAB.
    • Western Blot
      Positive WB detected in: Hela whole cell lysate, K562 whole cell lysate, SH-SY5Y whole cell lysate, A549 whole cell lysate, HL-60 whole cell lysate
      All lanes: OFD1 antibody at 1:1000
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 117,112,43 KDa
      Observed band size: 117 KDa
      Exposure time：5min
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) OFD1 Polyclonal antibody
  • Uniprot No.：
    O75665
  • 基因名：
    OFD1
  • 别名：
    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
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Oral-facial-digital syndrome 1 protein
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，OFD1 Antibody (CSB-PA016289LA01HU)，的标记方式是Non-conjugated。对于OFD1 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA016289LB01HU OFD1 Antibody, HRP conjugated ELISA
    FITC CSB-PA016289LC01HU OFD1 Antibody, FITC conjugated
    Biotin CSB-PA016289LD01HU OFD1 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide and 50% glycerol pH 7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:20-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    1. The s 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

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  • 相关疾病：
    Orofaciodigital syndrome 1 (OFD1); Simpson-Golabi-Behmel syndrome 2 (SGBS2); Joubert syndrome 10 (JBTS10); Retinitis pigmentosa 23 (RP23)
  • 亚细胞定位：
    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
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 2567

    OMIM: 300170

    KEGG: hsa:8481

    STRING: 9606.ENSP00000344314

    UniGene: Hs.6483