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  4. LDLRAP1 Antibody

LDLRAP1 Antibody

  • 中文名稱：
    LDLRAP1兔多克隆抗體
  • 貨號：
    CSB-PA729190ESR2HU
  • 規(guī)格：
    ￥440
  • 圖片：
    • Immunohistochemistry of paraffin-embedded human colon cancer using CSB-PA729190ESR2HU at dilution of 1:100
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) LDLRAP1 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
  • 別名：
    ARH antibody; ARH GENE antibody; ARH_HUMAN antibody; ARH1 antibody; ARH2 antibody; Autosomal recessive hypercholesterolemia protein antibody; DKFZp586D0624 antibody; FHCB1 antibody; FHCB2 antibody; LDL receptor adaptor protein antibody; Ldlrap1 antibody; Low density lipoprotein receptor adapter protein 1 antibody; MGC34705 antibody; OTTHUMP00000008526 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Low density lipoprotein receptor adapter protein 1 protein (59-308AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    Non-conjugated
  • 克隆類型：
    Polyclonal
  • 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 0.02% sodium azide, 50% glycerol, pH7.3.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA, IHC
  • 推薦稀釋比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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(chǎn)品評價

靶點詳情

  • 功能：
    Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression.
  • 基因功能參考文獻(xiàn)：
    1. LDLRAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. PMID: 28958330
    2. Numb specifically regulates NPC1L1-mediated cholesterol absorption both in human intestine and liver, distinct from ARH and Dab2, which selectively participate in LDLR-mediated LDL uptake. PMID: 25331956
    3. Identification of ARH gene and characterization of its mutations in Autosomal Recessive Hypercholesterolemia patients [Review] PMID: 25225128
    4. cells that depend upon ARH for LDL uptake can control which lipoproteins are internalized by their LDLRs through changes in nitric oxide. PMID: 23564733
    5. This work identified a combined LDL receptor and LDLRAP1 mutation as the cause for severe familial hypercholesterolemia in a family of Turkish descent. PMID: 23510778
    6. The report provides evidence that endocytosis of the ROMK potassium channel is controlled by LDLRAP1 (ARH). ROMK binds directly to the LDLRAP1, and this interaction is mediated by a novel variant of the canonical "NPXY" endocytotic signal, YxNPxFV. LDLRAP1-knockout mice are unable to physiologically regulate ROMK. PMID: 19841541
    7. report the crystal structure at 1.37-A resolution of the phosphotyrosine-binding (PTB) domain of ARH in complex with an LDLR tail peptide containing the FxNPxY(0) internalization signal PMID: 22509010
    8. LDL receptor/LDLRAP1 double heterozygous mutations may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in familial hypercholesterolemia patients. PMID: 21872251
    9. ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence. PMID: 21778424
    10. Knockdown of ARH in polarized epithelial cells leads to specific apical missorting of truncated LDLR, which encodes only the FxNPxY motif (LDLR-CT27). PMID: 21444685
    11. newly identified a rare Thr56Met missense mutation located in the phosphotyrosine-binding domain of ARH; among 1,800 Japanese individuals, only 4 were heterozygous for Thr56Met and all had hypercholesterolemia resembling familiar hypercholesterolemia PMID: 20124734
    12. Report prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. PMID: 19477448
    13. ARH functions as an adaptor protein that couples LDLR to the endocytic machinery PMID: 12221107
    14. The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. In ARH patients, defective sorting adaptor function in hepatocytes leads to faulty LDL receptor traffic and hypercholesterolemia. PMID: 12451172
    15. restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression PMID: 12464675
    16. Single nucleotide polymorphism discovered among normal subjects at position 604 (cytosine to thymine: ARH-604C to ARH-604T), which changes proline residue at 202 to serine. ARH caused by mutation of cytosine to adenine at this same position. PMID: 12788851
    17. ARH facilitates endocytosis of megalin, escorts megalin along its endocytic route PMID: 14528014
    18. findings indicate that low density lipoprotein (LDL) receptor adaptor protein(ARH) is required not only for internalization of the LDL.LDL Receptor complex but also for efficient binding of LDL to the receptor PMID: 15166224
    19. Splice site mutant lacks 26 amino acids, resulting in the loss of beta-strands beta6 and beta7 from the PTB domain. PMID: 15599766
    20. ARH protein has an AP-2 beta2 appendage-binding sequence PMID: 15728179
    21. ARH is an endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles PMID: 16129683
    22. Dab2 expression is exceptionally low in hepatocytes, likely accounting for the pathological hypercholesterolemia that accompanies ARH loss. PMID: 16870701
    23. ARH might accelerate later steps in LDLR endocytosis in cooperation with AP-2. PMID: 16984970
    24. Large deletion in the ARH gene is associated with autosomal recessive hypercholesterolemia PMID: 17686643
    25. the endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis PMID: 18417616
    26. PCSK9-mediated LDLR degradation is not entirely dependent on ARH function PMID: 19081568

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  • 相關(guān)疾病：
    Hypercholesterolemia, autosomal recessive (ARH)
  • 亞細(xì)胞定位：
    Cytoplasm.
  • 組織特異性：
    Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 18640

    OMIM: 603813

    KEGG: hsa:26119

    STRING: 9606.ENSP00000363458

    UniGene: Hs.590911



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