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  4. Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4 (ATP6V0A4), partial

Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4 (ATP6V0A4), partial

  • 中文名称：
    Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4(ATP6V0A4) ,partial
  • 货号：
    CSB-YP881016HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4(ATP6V0A4) ,partial
  • 货号：
    CSB-EP881016HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4(ATP6V0A4) ,partial
  • 货号：
    CSB-EP881016HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4(ATP6V0A4) ,partial
  • 货号：
    CSB-BP881016HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4(ATP6V0A4) ,partial
  • 货号：
    CSB-MP881016HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    ATP6V0A4
  • Uniprot No.：
    Q9HBG4
  • 别名：
    ATP6V0A4; ATP6N1B; ATP6N2; V-type proton ATPase 116 kDa subunit a isoform 4; V-ATPase 116 kDa isoform a4; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

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ATP6V0A4 antibodies

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Renal tubular acidosis, distal, autosomal recessive (RTADR)
  • 亚细胞定位：
    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
  • 组织特异性：
    Expressed in adult and fetal kidney. Found in the inner ear.
  • 数据库链接：

    HGNC: 866

    OMIM: 602722

    KEGG: hsa:50617

    STRING: 9606.ENSP00000253856

    UniGene: Hs.98967

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