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NBAS Antibody

  • 货号：
    CSB-PA015481GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    A2RRP1
  • 基因名：
    NBAS
  • 别名：
    NBAS antibody; NBAS_HUMAN antibody; Neuroblastoma-amplified gene protein antibody; Neuroblastoma-amplified sequence antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human NBAS
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH); Infantile liver failure syndrome 2 (ILFS2)
  • 亚细胞定位：
    Cytoplasm. Endoplasmic reticulum. Endoplasmic reticulum membrane; Peripheral membrane protein.
  • 组织特异性：
    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
  • 数据库链接：

    HGNC: 15625

    OMIM: 608025

    KEGG: hsa:51594

    STRING: 9606.ENSP00000281513

    UniGene: Hs.467759