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  4. ARL6 Antibody

ARL6 Antibody

  • 中文名稱：
    ARL6兔多克隆抗體
  • 貨號：
    CSB-PA002093GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    ARL6
  • 別名：
    ADP ribosylation factor like 6 antibody; ADP ribosylation factor like protein 6 antibody; ADP-ribosylation factor-like protein 6 antibody; Arl6 antibody; ARL6_HUMAN antibody; Bardet Biedl syndrome 3 protein antibody; Bardet-Biedl syndrome 3 protein antibody; BBS3 antibody; MGC32934 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human ARL6
  • 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 0.1% 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,IHC
  • 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：
    Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia. Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper retinal function and organization.
  • 基因功能參考文獻：
    1. Mutations of the ARL6 gene cause Bardet-Biedl syndrome, a heterogeneous disorder that increases the risk of Hypertension and Diabetes mellitus. PMID: 27271309
    2. Elevated levels of serum ARL6 were able to discriminate between excessive alcohol users and controls. PMID: 25704570
    3. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
    4. The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome. ARL6 E108A mutation prevents BBSome recruitment to cilia. PMID: 25402481
    5. Arl6 is indispensable in cilia signaling but dispensable in ciliogenesis (Review). PMID: 23548655
    6. BBS3 A89V is sufficient to rescue the transport delays induced by the loss of BBS3 but was unable to rescue vision impairment PMID: 21282186
    7. Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. PMID: 20207729
    8. the first null mutation reported in BBS3 gene in patient with Bardet-Biedl syndrome PMID: 20142850
    9. These data demonstrate that the BBS3L transcript is required for proper retinal function and organization. PMID: 20333246
    10. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. PMID: 15314642
    11. These findings implicate that Arl6 mutants are destabilized and eliminated by the proteasome in cells, probably due to the altered nucleotide-binding properties. PMID: 19236846

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  • 相關疾病：
    Bardet-Biedl syndrome 3 (BBS3); Retinitis pigmentosa 55 (RP55)
  • 亞細胞定位：
    Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.
  • 蛋白家族：
    Small GTPase superfamily, Arf family
  • 數據庫鏈接：

    HGNC: 13210

    OMIM: 600151

    KEGG: hsa:84100

    STRING: 9606.ENSP00000337722

    UniGene: Hs.373801



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