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  4. Recombinant Human Neuroblastoma-amplified sequence (NBAS), partial

Recombinant Human Neuroblastoma-amplified sequence (NBAS), partial

  • 中文名稱(chēng)：
    人NBAS重組蛋白
  • 貨號(hào)：
    CSB-YP015481HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱(chēng)：
    人NBAS重組蛋白
  • 貨號(hào)：
    CSB-EP015481HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱(chēng)：
    人NBAS重組蛋白
  • 貨號(hào)：
    CSB-EP015481HU-B
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 共軛：
    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：
  • 中文名稱(chēng)：
    人NBAS重組蛋白
  • 貨號(hào)：
    CSB-BP015481HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱(chēng)：
    人NBAS重組蛋白
  • 貨號(hào)：
    CSB-MP015481HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    NBAS
  • Uniprot No.：
  • 別名：
    NBAS; NBAS_HUMAN; Neuroblastoma-amplified gene protein; Neuroblastoma-amplified sequence
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 蛋白標(biāo)簽：
    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.
  • 產(chǎn)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.
  • 復(fù)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.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期：
    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.
  • 注意事項(xiàng)：
    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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER.
  • 基因功能參考文獻(xiàn)：
    1. NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure) PMID: 28629372
    2. The age of the mutation in Yakutia was estimated to be about 804 +/- 140 years. The frequency of heterozygous carriers of mutation G5741-->A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts PMID: 29369590
    3. variants in NBAS, are reported as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. PMID: 27789416
    4. A novel compound heterozygous mutations of NBAS (NM_015909.3): c.680A > C (p.His227Pro) were identified in two siblings with acute liver failure. PMID: 28576691
    5. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. PMID: 26286438
    6. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. PMID: 26073778
    7. DHX34 and NBAS act in concert with core nonsense-mediated mRNA decay factors to co-regulate a large number of endogenous RNA targets. PMID: 23828042
    8. These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huet anomaly. PMID: 20577004
    9. There may be a subset of NB in which enhanced DDX1 and low-NAG expression consequent to DDX1 co-amplification without NAG amplification contributes to susceptibility to intensive therapy. PMID: 17028906
    10. Results together suggest that NAG links between p31 and ZW10-RINT-1 and is involved in Golgi-to-ER transport. PMID: 19369418
    11. Defects in NAG-ELMO1 is associated with leukemic progression. PMID: 19407829

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  • 相關(guān)疾病：
    Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH); Infantile liver failure syndrome 2 (ILFS2)
  • 亞細(xì)胞定位：
    Cytoplasm. Endoplasmic reticulum. Endoplasmic reticulum membrane; Peripheral membrane protein.
  • 組織特異性：
    Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblas
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 15625

    OMIM: 608025

    KEGG: hsa:51594

    STRING: 9606.ENSP00000281513

    UniGene: Hs.467759