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  4. AP2S1 Recombinant Monoclonal Antibody

AP2S1 Recombinant Monoclonal Antibody

  • 中文名稱：
    AP2S1 Recombinant Monoclonal Antibody
  • 貨號：
    CSB-RA553767A0HU
  • 規格：
    ￥1320
  • 圖片：
    • Flow cytometric analysis of AP2S1 expression in C2C12 cells using AP2S1 antibody. Green, isotype control; red, AP2S1.
    • Immunocytochemical staining of C2C12 cells with AP2S1 antibody. Nuclei were stained blue with DAPI; AP2S1 was stained magenta with Alexa Fluor? 647. Images were taken using Leica stellaris 5. Protein abundance based on laser Intensity and smart gain: Medium. Scale bar, 20 μm.
    • Western blotting analysis using AP2S1 antibody. Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with AP2S1 antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively.
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
  • 別名：
    AP2S1; Adaptor Related Protein Complex 2 Subunit Sigma 1; CLAPS2; FBH3; Adaptor Related Protein Complex 2 Sigma 1 Subunit; Clathrin Assembly Protein 2 Sigma Small Chain; Plasma Membrane Adaptor AP-2 17 KDa Protein; Adaptor Protein Complex AP-2 Subunit Sigma; Clathrin Coat-Associated Protein AP17; Clathrin Coat Assembly Protein AP17; AP-2 Complex Subunit Sigma; HA2 17 KDa Subunit; Sigma2-Adaptin; Sigma-2; FBHOk; AP17; HHC3; Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD); Adaptor-Related Protein Complex 2 Subunit Sigma; Hypocalciuric Hypercalcemia 3 (Oklahoma Type); FBHOK
  • 反應種屬：
    Human, Mouse, Rat
  • 免疫原：
    Recombinant Human AP2S1 protein
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Non-conjugated
  • 克隆類型：
    Monoclonal
  • 抗體亞型：
    Rabbit IgG
  • 純化方式：
    Affinity-chromatography
  • 克隆號：
    22D9
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Rabbit IgG in PBS (pH 7.4) containing 50% glycerol, and 0.02% sodium azide.
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA, WB, FC, ICC
  • 推薦稀釋比：
    Application Recommended Dilution
    WB 1:1000-1:5000
    FC 1:200-1:2000
    ICC 1:100-1:1000
  • 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 adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif. May also play a role in extracellular calcium homeostasis.
  • 基因功能參考文獻：
    1. In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11. PMID: 27913609
    2. our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. PMID: 26082470
    3. The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations. PMID: 24731014
    4. The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that autosomal dominant hypocalcemia 3 (ADH3) may not occur or otherwise represents a rare hypocalcemic disorder. PMID: 24708097
    5. None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism. PMID: 24423332
    6. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. PMID: 23222959

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  • 相關疾病：
    Hypocalciuric hypercalcemia, familial 3 (HHC3)
  • 亞細胞定位：
    Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side.
  • 蛋白家族：
    Adaptor complexes small subunit family
  • 數據庫鏈接：

    HGNC: 565

    OMIM: 600740

    KEGG: hsa:1175

    STRING: 9606.ENSP00000263270

    UniGene: Hs.119591