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  4. FIG4 Antibody

FIG4 Antibody

  • 中文名称：
    FIG4兔多克隆抗体
  • 货号：
    CSB-PA775680
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of 1,mouse-liver 2,hela 3,mouse-brain cells using primary antibody diluted at 1:1000(4°C overnight). Secondary antibody:Goat Anti-rabbit IgG IRDye 800( diluted at 1:5000, 25°C, 1 hour)
  • 其他：

产品详情

  • Uniprot No.：
    Q92562
  • 基因名：
    FIG4
  • 别名：
    5-bisphosphate 5-phosphatase antibody; ALS 11 antibody; ALS11 antibody; BTOP antibody; CMT4J antibody; dJ249I4. antibody; Fig4 antibody; FIG4 homolog (S cerevisiae) antibody; FIG4 homolog antibody; FIG4 homolog SAC domain containing lipid phosphatase antibody; FIG4 homolog SAC1 lipid phosphatase domain containing antibody; FIG4 homolog; SAC1 lipid phosphatase domain containing (S cerevisiae antibody; FIG4 phosphoinositide 5 phosphatase antibody; FIG4_HUMAN antibody; KIAA0274 antibody; phosphatidylinositol 3 5 bisphosphate 5 phosphatase antibody; Phosphatidylinositol 3 antibody; Phosphatidylinositol 3,5 bisphosphate 5 phosphatase antibody; Polyphosphoinositide phosphatase antibody; RP1-249I4.1 antibody; SAC 3 antibody; Sac domain containing inositol phosphatase 3 antibody; SAC domain containing protein 3 antibody; SAC domain-containing protein 3 antibody; SAC3 antibody; YVS antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from Human FIG4. at AA range: 341-390
  • 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 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,ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-2000
    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：
    Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate. Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production. In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro.
  • 基因功能参考文献：
    1. A rare heterozygous FIG4 frameshift variant was identified in a German family. Sequence analysis of FIG4 in 200 ALS cases revealed five rare heterozygous FIG4 missense variants predicted to be deleterious. FIG4 is an ALS risk gene in a central European cohort. PMID: 28051077
    2. These results suggest that FIG4 binds to hepatitis C virus and modulates particle formation in a cholesteryl ester-related manner. PMID: 26519381
    3. data identify a novel role of the ArPIKfyve-Sac3 complex in the mechanisms controlling aggregate formation of Sph1 and suggest that Sac3 protein deficiency or overproduction may facilitate aggregation of aggregation-prone proteins PMID: 26405034
    4. The findings suggest that FIG4 may have a common role in the formation or degradation of neuronal cytoplasmic and nuclear inclusions in several neurodegenerative diseases. PMID: 23888880
    5. FIG4 mutations were identified in autosomal-dominant Amyotrophic lateral sclerosis. PMID: 24085347
    6. Phenotypes associated with FIG4 mutations include cortical malformation associated with seizures and psychiatric manifestations, in addition to the Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. PMID: 24598713
    7. Identified novel biallelic FIG4 mutations. PMID: 24088667
    8. Genetic variations in the FIG4 gene were not found to cause ALS in Italian patients. PMID: 23336365
    9. results uncover an unexpected role for Sac3 phosphatase in triple-negative breast cancer cell proliferation PMID: 24070605
    10. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. PMID: 23623387
    11. This study demonistrated that CMT4J is a clinically distinct form of Charcot-Marie-Tooth disease with mutations in the PI(3,5)P phosphatase FIG4. PMID: 21705420
    12. a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J. PMID: 20630877
    13. We identified pathogenic mutations of human FIG4 (KIAA0274) on chromosome 6q21 in four unrelated patients with hereditary motor and sensory neuropathy. PMID: 17572665
    14. The s data indicate that the PAS complex is organized to provide optimal PIKfyve functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions. PMID: 18950639
    15. Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases PMID: 19118816
    16. PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis PMID: 19840946

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  • 相关疾病：
    Charcot-Marie-Tooth disease 4J (CMT4J); Amyotrophic lateral sclerosis 11 (ALS11); Yunis-Varon syndrome (YVS); Polymicrogyria, bilateral temporooccipital (BTOP)
  • 亚细胞定位：
    Endosome membrane.
  • 数据库链接：

    HGNC: 16873

    OMIM: 216340

    KEGG: hsa:9896

    STRING: 9606.ENSP00000230124

    UniGene: Hs.529959