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AIPL1 Antibody

  • 货号：
    CSB-PA001501GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9NZN9
  • 基因名：
    AIPL1
  • 别名：
    A930007I01Rik antibody; Aipl1 antibody; AIPL1_HUMAN antibody; AIPL2 antibody; Aryl hydrocarbon interacting protein like 1 antibody; Aryl hydrocarbon receptor interacting protein like 1 antibody; Aryl-hydrocarbon-interacting protein-like 1 antibody; LCA4 antibody; MGC25485 antibody; OTTHUMP00000128207 antibody; OTTMUSP00000006382 antibody; RP23-401C17.1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human AIPL1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 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：
    May be important in protein trafficking and/or protein folding and stabilization.
  • 基因功能参考文献：
    1. This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations PMID: 28939106
    2. findings offer critical insights into the mechanisms that underlie AIPL1 function in health and disease, and highlight the structural and functional diversity of the FKBPs PMID: 28739921
    3. s characterized the functional deficits of AIPL1 variations, some of which induce aberrant pre-mRNA AIPL1 splicing leading to the production of alternative AIPL1 isoforms and investigated the ability of the AIPL1 variants to mediate an interaction with HSP90 and modulate the rod cGMP PDE6 stability and activity. PMID: 28973376
    4. Findings suggest that AIPL1 function in retinal photoreceptor cells is not related to the role of EB proteins in microtubule dynamics or primary ciliogenesis, but their association may be related to a specific role in the retinal photoreceptors. PMID: 25799540
    5. The s established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region. PMID: 25274777
    6. Gene therapy based approach may be worthy of consideration in a small group of selected patients with preserved outer retinal structure in AIPL1 Leber's congenital amaurosis. PMID: 25596619
    7. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. PMID: 25148430
    8. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors. PMID: 24664679
    9. The unique proline-rich domain of AIPL1 is important for its chaperone function as its truncation severely affects the ability of AIPL1 to bind non-native proteins. PMID: 23418749
    10. Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses. PMID: 21900377
    11. AIPL1-Leber congenital amaurosis (LCA), unlike some other forms of LCA with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors. PMID: 20702822
    12. AIPL1 is needed for the proper functioning and survival of cone photoreceptors. PMID: 20042464
    13. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
    14. Phenotype-genotype correlations of AIPL1-associated Leber's congenital amaurosis (LCA) PMID: 11548141
    15. AIPL1 performs a function essential to the maintenance of rod photoreceptor function PMID: 11929855
    16. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 in the retina. PMID: 12374762
    17. Interacts with and aids in processing of farnesylated proteins in the retina. PMID: 14555765
    18. interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis PMID: 15081406
    19. Plays role in cytosolic stability and/or nuclear transport of NUB1 during regulation of cell cyle during photoreceptor development. PMID: 15180275
    20. The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset. PMID: 15249368
    21. Data show that aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) can modulate protein translocation and act in a chaperone-like manner and suggest that AIPL1 is an important modulator of NEDD8 ultimate buster protein 1 (NUB1) cellular function. PMID: 15347646
    22. aryl hydrocarbon interacting protein-like 1 (AIPL1) mutations may have a role in inherited retinal dystrophies PMID: 15469903
    23. AIPL1 may cooperate with both Hsp70 and Hsp90 within retina-specific chaperone heterocomplex, and specialized role of AIPL1 in photoreceptors may therefore be facilitated by these molecular chaperones. PMID: 18408180

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  • 相关疾病：
    Leber congenital amaurosis 4 (LCA4)
  • 亚细胞定位：
    Cytoplasm. Nucleus.
  • 组织特异性：
    Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.
  • 数据库链接：

    HGNC: 359

    OMIM: 604392

    KEGG: hsa:23746

    STRING: 9606.ENSP00000370521

    UniGene: Hs.279887