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  4. GORAB Antibody

GORAB Antibody

  • 货号：
    CSB-PA009674GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q5T7V8
  • 基因名：
  • 别名：
    FLJ11752 antibody; GO antibody; Golgin RAB6 interacting antibody; GORAB antibody; GORAB_HUMAN antibody; hNTKL BP1 antibody; hNTKL-BP1 antibody; MGC51263 antibody; MGC70512 antibody; N terminal kinase like binding protein 1 antibody; N-terminal kinase-like-binding protein 1 antibody; NTKL binding protein 1 antibody; NTKL BP1 antibody; NTKL-binding protein 1 antibody; NTKL-BP1 antibody; NTKLBP 1 antibody; NTKLBP1 antibody; OTTHUMP00000033164 antibody; RAB6-interacting golgin antibody; RP11 545I10.1 antibody; SCY1 like 1 binding protein 1 antibody; SCY1-like 1-binding protein 1 antibody; SCYL1 binding protein 1 antibody; SCYL1 BP1 antibody; SCYL1-binding protein 1 antibody; SCYL1-BP1 antibody; SCYL1BP1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GORAB
  • 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

  • 基因功能参考文献：
    1. Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient. PMID: 28807865
    2. in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability PMID: 27604556
    3. SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F and RRM2 proteins, thus constituting a dual regulatory circuit PMID: 25980818
    4. SCYL1-BP1 plays a critical role in the regulation of EEA1, BMPR2 and BRCA2 expression. PMID: 25234469
    5. SCYL1BP1 can promote the degradation of MDM2 protein and further inhibit the G1/S transition of lung SCC lines. Reintroduction of SCYL1BP1 into lung SCC lines significantly inhibited cell proliferation, migration, invasion and tumor formation. PMID: 25227860
    6. Data suggest that SCYL1-BP1 is a novel regulator of the MDM2-p53 feedback loop and that it may be a potential tumor suppressor. PMID: 20849854
    7. The chemotaxis signal pathway induced by chemokines CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein, phospholipase C (PLC) and protein kinase C delta (PKC delta). PMID: 19951712
    8. study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica PMID: 19681135
    9. assessment of interaction with hPirh2 PMID: 15781263
    10. Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. PMID: 18997784

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  • 相关疾病：
    Geroderma osteodysplasticum (GO)
  • 亚细胞定位：
    Cytoplasm. Golgi apparatus.
  • 蛋白家族：
    GORAB family
  • 数据库链接：

    HGNC: 25676

    OMIM: 231070

    KEGG: hsa:92344

    STRING: 9606.ENSP00000356737

    UniGene: Hs.183702