AIPL1 Antibody
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中文名稱：AIPL1兔多克隆抗體
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貨號：CSB-PA001501GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：AIPL1
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別名：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
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human AIPL1
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：May be important in protein trafficking and/or protein folding and stabilization.
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基因功能參考文獻：
- 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
- 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
- Authors 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
- 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
- The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region. PMID: 25274777
- 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
- Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. PMID: 25148430
- In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors. PMID: 24664679
- 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
- Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses. PMID: 21900377
- 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
- AIPL1 is needed for the proper functioning and survival of cone photoreceptors. PMID: 20042464
- Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
- Phenotype-genotype correlations of AIPL1-associated Leber's congenital amaurosis (LCA) PMID: 11548141
- AIPL1 performs a function essential to the maintenance of rod photoreceptor function PMID: 11929855
- The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 in the retina. PMID: 12374762
- Interacts with and aids in processing of farnesylated proteins in the retina. PMID: 14555765
- interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis PMID: 15081406
- Plays role in cytosolic stability and/or nuclear transport of NUB1 during regulation of cell cyle during photoreceptor development. PMID: 15180275
- 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
- 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
- aryl hydrocarbon interacting protein-like 1 (AIPL1) mutations may have a role in inherited retinal dystrophies PMID: 15469903
- 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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相關疾病：Leber congenital amaurosis 4 (LCA4)
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亞細胞定位：Cytoplasm. Nucleus.
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組織特異性：Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.
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數據庫鏈接：
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