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GOSR2 Antibody

  • 货号：
    CSB-PA009678GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O14653
  • 基因名：
    GOSR2
  • 别名：
    2310032N09Rik antibody; 27 kDa Golgi SNARE protein antibody; Bos1 antibody; EPM6 antibody; Golgi SNAP receptor complex member 2 antibody; Golgi SNARE antibody; Gosr2 antibody; GOSR2_HUMAN antibody; Gs27 antibody; Membrin antibody; SNARE antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GOSR2
  • 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 transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
  • 基因功能参考文献：
    1. Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. PMID: 29855340
    2. Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1. PMID: 28982678
    3. Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity. PMID: 28978487
    4. review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review] PMID: 27618868
    5. The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs). PMID: 26760525
    6. Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia. PMID: 24458321
    7. A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men PMID: 23675987
    8. Single nucleotide polymorphisms in the GOSR2 gene are associated with essential hypertension in Japanese men. PMID: 23313660
    9. GOSR2 gene mutation is associated with progressive myoclonus epilepsy cases, all of whom came from countries bounding the North Sea, extending to the coastal region of Northern Norway. PMID: 23449775
    10. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi. PMID: 21549339
    11. A homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), was identified in five apparently unrelated families with a clinically distinct progressive myoclonic epilepsy syndrome. PMID: 21549339
    12. These studies suggest that membrin recruits Arf-1 to the early Golgi and reveal distinct kinetic cycles for Arf-1 at early and late Golgi determined by different sets of Arf regulators and effectors. PMID: 15781476
    13. We found evidence that a SNP in GOSR2 is modestly associated with hypertension in whites from the ARIC study and the WGHS. PMID: 19057520

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  • 相关疾病：
    Epilepsy, progressive myoclonic 6 (EPM6)
  • 亚细胞定位：
    Golgi apparatus, cis-Golgi network membrane; Single-pass type IV membrane protein. Golgi apparatus membrane. Endoplasmic reticulum membrane.
  • 蛋白家族：
    GOSR2 family
  • 数据库链接：

    HGNC: 4431

    OMIM: 604027

    KEGG: hsa:9570

    STRING: 9606.ENSP00000225567

    UniGene: Hs.463278