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ARL13B Antibody

  • 中文名稱:
    ARL13B兔多克隆抗體
  • 貨號:
    CSB-PA002074GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    ARL13B
  • 別名:
    ADP ribosylation factor like 13B antibody; ADP ribosylation factor like 2 like 1 antibody; ADP-ribosylation factor-like protein 13B antibody; ADP-ribosylation factor-like protein 2-like 1 antibody; AR13B_HUMAN antibody; arl13b antibody; ARL2-like protein 1 antibody; ARL2L1 antibody; JBTS8 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human ARL13B
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IF
  • 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:
    Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidence is required to confirm these data.
  • 基因功能參考文獻:
    1. Joubert syndrome protein ARL13B controls axoneme polyglutamylation. PMID: 30120249
    2. A novel homozygous loss of function mutation in ARL13B was identified in patients with Joubert syndrome PMID: 29255182
    3. High Arl13b expression is associated with medulloblastoma formation. PMID: 29378965
    4. the results show that palmitoylation plays a unique and critical role in controlling the localization, stability, abundance, and thus function of ARL13b. Pharmacological manipulation of protein palmitoylation may be a strategy to alter cilia function. PMID: 28848045
    5. Our results show how Arl13b participates in Hedgehog pathway activation in gastric cancer PMID: 28611043
    6. Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. PMID: 28158906
    7. Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).( PMID: 28487361
    8. Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity. PMID: 25138100
    9. We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms. PMID: 24339792
    10. X-ray crystallography of Arl13B demonstrates involvement of mutations R79Q and R200C in stabilizing intramolecular interactions. PMID: 24168557
    11. Arl13b acts as the all-rounder in cilia formation and signaling (Review). PMID: 23548655
    12. data reveal a novel but conserved role for the SUMOylation modification of ciliary small GTPase ARL13B in specifically regulating the proper ciliary targeting of various sensory receptors PMID: 23128241
    13. These results indicate a previously unidentified role for Arl13b in endocytic recycling traffic and suggest a link between Arl13b function and the actin cytoskeleton. PMID: 23223633
    14. Expression of Arl13b variants known to cause Joubert syndrome induce defective interneuronal migration, suggesting that defects in cilia-dependent interneuron migration may in part underlie the neurological defects in Joubert syndrome patients. PMID: 23153492
    15. data implicate a role for JS-associated Arl13b at ciliary membranes, where it regulates ciliary transmembrane protein localizations and anterograde IFT assembly stability PMID: 20231383
    16. These findings suggest that N and C domains of Arl13b cooperatively regulate its ciliary localization and that N domain-dependent self-association of Arl13b may be important for its function in cilia biogenesis. PMID: 18554500
    17. ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs PMID: 18674751

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  • 相關疾病:
    Joubert syndrome 8 (JBTS8)
  • 亞細胞定位:
    Cell projection, cilium membrane; Lipid-anchor. Cell projection, cilium. Note=Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.
  • 蛋白家族:
    Small GTPase superfamily, Arf family
  • 組織特異性:
    Expressed in the developing brain.
  • 數據庫鏈接:

    HGNC: 25419

    OMIM: 608922

    KEGG: hsa:200894

    STRING: 9606.ENSP00000377769

    UniGene: Hs.533086



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