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PLEKHG4 Antibody

  • 货号：
    CSB-PA008584
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q58EX7
  • 基因名：
    PLEKHG4
  • 别名：
    ARHGEF44 antibody; DKFZp434I216 antibody; PH domain containing family G member 4 antibody; PH domain-containing family G member 4 antibody; PKHG4_HUMAN antibody; Pleckstrin homology and RhoGEF domain containing G4 antibody; Pleckstrin homology domain containing family G (with RhoGef domain) member 4 antibody; Pleckstrin homology domain containing family G member 4 antibody; Pleckstrin homology domain-containing family G member 4 antibody; PLEKHG 4 antibody; PLEKHG4 antibody; PRTPHN 1 antibody; PRTPHN1 antibody; Puratrophin 1 antibody; Puratrophin-1 antibody; Puratrophin1 antibody; Purkinje cell atrophy associated protein 1 antibody; Purkinje cell atrophy-associated protein 1 antibody; SCA 4 antibody; SCA4 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Monkey
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human Puratrophin 1.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:20000
  • 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：
    Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.
  • 基因功能参考文献：
    1. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. PMID: 25025572
    2. This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1. PMID: 21357611
    3. (TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31 PMID: 20424877
    4. Spinocerebellar ataxia type 4 (SCA4) is mapped to chromosome 16q22.1 in northern germany.Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. PMID: 12796826
    5. the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III. PMID: 15455264
    6. puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus PMID: 16001362
    7. Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. PMID: 16491300
    8. We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA. PMID: 16780885
    9. among 686 autosomal dominant spinocerebellar ataxia families in our cohort, 57 families were identified to have 65 affected individuals, who carried the C-to-T substitution of the puratrophin-1 gene PMID: 17357132
    10. Disease locus of 16q-autosomal dominant cerebellar ataxia was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1. PMID: 17611710
    11. Rac1 activation specifically in membrane ruffles by the guanine-nucleotide-exchange factor FLJ00068 is sufficient for insulin induction of glucose uptake into skeletal-muscle cells. PMID: 18482007
    12. The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China. PMID: 19065522

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  • 组织特异性：
    Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widel
  • 数据库链接：

    HGNC: 24501

    OMIM: 609526

    KEGG: hsa:25894

    STRING: 9606.ENSP00000353646

    UniGene: Hs.188781