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AP2S1 Antibody

  • 货号：
    CSB-PA719443
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA719443(AP2S1 Antibody) at dilution 1/25, on the right is treated with fusion protein. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    P53680
  • 基因名：
  • 别名：
    Adapter-related protein complex 2 sigma subunit antibody; Adaptor protein complex AP 2 subunit sigma antibody; Adaptor protein complex AP-2 subunit sigma antibody; Adaptor protein complex AP2 subunit sigma antibody; Adaptor related protein complex 2 sigma 1 subunit antibody; AI043088 antibody; AP 17 antibody; AP 2 complex subunit sigma 1 antibody; AP-2 complex subunit sigma antibody; AP17 antibody; AP17 delta antibody; AP2 complex subunit sigma 1 antibody; Ap2s1 antibody; AP2S1_HUMAN antibody; CLAPS 2 antibody; CLAPS2 antibody; Clathrin adaptor complex AP2; sigma subunit antibody; Clathrin adaptor protein AP17 antibody; Clathrin assembly protein 2 small chain antibody; Clathrin associated/assembly/adaptor protein small 2 antibody; Clathrin associated/assembly/adaptor protein small 2; 17-KD antibody; Clathrin associated/assembly/adaptor protein; small 2 (17kD) antibody; Clathrin coat assembly protein AP17 antibody; Clathrin coat associated protein AP17 antibody; Clathrin coat-associated protein AP17 antibody; HA2 17 kDa subunit antibody; MGC62945 antibody; Plasma membrane adaptor AP 2 17 kDa protein antibody; Plasma membrane adaptor AP-2 17 kDa protein antibody; Plasma membrane adaptor AP2 17 kDa protein antibody; Sigma adaptin 3b antibody; Sigma2 adaptin antibody; Sigma2-adaptin antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Fusion protein of Human AP2S1
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 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：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    IHC 1:25-1:100
  • 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 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Hypocalciuric hypercalcemia, familial 3 (HHC3)
  • 亚细胞定位：
    Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side.
  • 蛋白家族：
    Adaptor complexes small subunit family
  • 数据库链接：

    HGNC: 565

    OMIM: 600740

    KEGG: hsa:1175

    STRING: 9606.ENSP00000263270

    UniGene: Hs.119591