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ATP6V0A4 Antibody

  • 中文名稱：
    ATP6V0A4兔多克隆抗體
  • 貨號：
    CSB-PA881016ESR2HU
  • 規(guī)格：
    ￥440
  • 圖片：
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA881016ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human colon cancer using CSB-PA881016ESR2HU at dilution of 1:100
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) ATP6V0A4 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
  • 別名：
    ATP6V0A4 antibody; ATP6N1B antibody; ATP6N2 antibody; V-type proton ATPase 116 kDa subunit a isoform 4 antibody; V-ATPase 116 kDa isoform a4 antibody; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4 antibody; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4 protein (1-280AA)
  • 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：
    Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.
  • 基因功能參考文獻(xiàn)：
    1. The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis. PMID: 30230413
    2. Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. PMID: 29024829
    3. The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. PMID: 28233610
    4. ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase. PMID: 25951193
    5. e have described patients with severe distal renal tubular acidosis and a novel splicing mutation in the ATP6V0A4 gene in a family originating from the Siliana region in northwestern Tunisia PMID: 25572248
    6. For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases. PMID: 25285676
    7. Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL PMID: 24975934
    8. Mutations of the ATP6V0A4 gene is associated with primary distal renal tubular acidosis. PMID: 23729491
    9. Case Report: novel ATP6V0A4 gene mutation confirmed autosomal recessive distal renal tubular acidosis with normal hearing. PMID: 22854161
    10. Four mutations in the ATP6V0A4 gene were obesrved one single nucleotide deletion in exon 13, the nonsensein exon 3, and the missense changes in exon 17 and in exon 19. PMID: 24252324
    11. This study demonistrated that expression identifies subtypes of oligodendrogliomas, pilocytic astrocytomas and gangliogliomas and may contribute to refine characterization of these tumors. PMID: 22460948
    12. There is the first evidence presented with progressive hearing loss associated with ATP6VOA4 mutation in a chinese patient. PMID: 22093743
    13. Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. PMID: 20221774
    14. stability and function of the metabolon composed of H+ATPase and glycolytic components can be compromised by either loss of required PFK-1 binding (G820R) or loss of pump protein (R807Q) PMID: 18632794
    15. the a4 isoform may be responsible for targeting V-ATPases to the plasma membrane of MB231 cells and that cell surface V-ATPases play a significant role in breast cancer invasion PMID: 19366680
    16. Mutations in ATP6V0A4 present enlarged vestibular aqueduct and early onset sensorial hearing loss. PMID: 19639346

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  • 相關(guān)疾?。?/div>
    Renal tubular acidosis, distal, autosomal recessive (RTADR)
  • 亞細(xì)胞定位：
    Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.
  • 蛋白家族：
    V-ATPase 116 kDa subunit family
  • 組織特異性：
    Expressed in adult and fetal kidney. Found in the inner ear.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 866

    OMIM: 602722

    KEGG: hsa:50617

    STRING: 9606.ENSP00000253856

    UniGene: Hs.98967