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EPG5 Antibody

  • 中文名称：
    EPG5兔多克隆抗体
  • 货号：
    CSB-PA384782
  • 规格：
    ￥880
  • 图片：
    • Immunohistochemical analysis of paraffin-embedded human-liver, antibody was diluted at 1:200
    • Immunohistochemical analysis of paraffin-embedded human-liver, antibody was diluted at 1:200
  • 其他：

产品详情

  • Uniprot No.：
    Q9HCE0
  • 基因名：
    EPG5
  • 别名：
    Ectopic P granules autophagy protein 5 homolog (C. elegans) antibody; Ectopic P granules protein 5 homolog antibody; Epg5 antibody; EPG5_HUMAN antibody; HEEW1 antibody; hEPG5 antibody; KIAA1632 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthetic peptide from Human protein at AA range: 141-190
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 纯化方式：
    The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS, pH 7.4, containing 0.02% sodium azide as Preservative and 50% Glycerol.
  • 产品提供形式：
    Liquid
  • 应用范围：
    IHC,ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    IHC IHC-p:1:50-300
    ELISA 1:10000-20000
  • 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 autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located.
  • 基因功能参考文献：
    1. Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero PMID: 28748650
    2. Our report further reinforces that EPG5-related Vici syndrome is both a neurodevelopmental disorder, which can be diagnosed as early as the second trimester of pregnancy, as well as a neurodegenerative disorder. PMID: 28168853
    3. The Vici syndrome protein EPG5 is a Rab7 effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes. PMID: 27588602
    4. Seven SNPs were significantly associated with the risk of Alzheimer disease, and eight SNPs were associated with the age at onset of AD. PMID: 27586004
    5. We report two sisters with a nonsense mutation within exon 14 of the EPG5 gene and a phenotype consistent with Vici syndrome PMID: 26854214
    6. This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg PMID: 27343256
    7. A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. PMID: 25331754
    8. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. PMID: 23222957
    9. We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis. PMID: 17549423

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  • 相关疾病：
    Vici syndrome (VICIS)
  • 亚细胞定位：
    Cytoplasm, perinuclear region. Lysosome.
  • 蛋白家族：
    EPG5 family
  • 数据库链接：

    HGNC: 29331

    OMIM: 242840

    KEGG: hsa:57724

    STRING: 9606.ENSP00000282041

    UniGene: Hs.514843