Your Good Partner in Biology Research

  1. Home
  2. 抗体
  3. 多克隆抗体
  4. PIGA Antibody

PIGA Antibody

  • 货号：
    CSB-PA017965GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P37287
  • 基因名：
    PIGA
  • 别名：
    PIGA; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GlcNAc-PI synthesis protein; Phosphatidylinositol-glycan biosynthesis class A protein; PIG-A
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human PIGA
  • 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：
    Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.
  • 基因功能参考文献：
    1. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. PMID: 29974678
    2. The study established a human induced pluripotent stem cell (hiPSC) model containing the PIGAc.1234C>T mutation to study the effects of a hypomorphic allele of PIGA on neuronal development. Neuronal differentiation from neural progenitor cells generated by embryoid bodie formation in PIGAc.1234C>T is significantly impaired with decreased proliferation, aberrant synapse formation and abnormal membrane depolarization. PMID: 28441409
    3. Pig-a MFs as measured by the RBC Pig-a assay for the ENU-treated group increased in a time-dependent manner with the maximum value at week 4; however, those using the PIGRET assay reached comparable values at week 1 PMID: 27931808
    4. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. PMID: 26545172
    5. This case reports on a new missense PIGA germline mutation in a Chinese male infant presenting with developmental arrest and multisystemic disorders. PMID: 25885527
    6. the PIGA mutation in this family likely causes a reduction in GPI anchor protein cell surface expression in various cell types, resulting in the observed pleiotropic phenotype involving central nervous system, skin, and iron metabolism. PMID: 24259288
    7. Our data strongly suggest that the early frameshift mutation in PIGA produces a truncated hypomorph, which is sufficient to rescue the lethality in males but not the MCAHS2-like phenotype. PMID: 24357517
    8. The results of this study confirmed that PIGA mutations are one genetic cause of early-onset epileptic encephalopathies, suggesting that GPI-anchor deficiencies may be an underlying cause of EOEE. PMID: 24706016
    9. The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells. PMID: 22315493
    10. An X chromosome exome next-generation sequencing screen identified a single nonsense PIGA mutation. PMID: 22305531
    11. loss of PIG-A or a combination of genes within the 0.5 Mb commonly deleted region leads to a phenotype capable of avoiding immune surveillance, but is not inherently malignant. PMID: 21116280
    12. the PIG-A mutations in paroxysmal nocturnal hemoglobinuria patients PMID: 15625823
    13. Molecular testing for mutations in the PIG-A gene can serve as a confirmation test of paroxysmal nocturnal hemoglobinuria. PMID: 12037021
    14. Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro allows paroxysmal nocturnal hemoglobinuria clones to escape immune attack. PMID: 12130519
    15. PIG-A gene abnormality in precursor cells and changes of expression of GPI-anchored protein and contribution of paroxysmal nocturnal hemoglobinuria clones with PIG-A gene abnormalities among various cell lineages during differentiation and maturation PMID: 12411324
    16. The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria reveals a high incidence of multiple mutations and evidence of a mutational hot spot. PMID: 12424196
    17. PIG-A mutations are relatively common in normal hematopoiesis PMID: 15687243
    18. review of the clinical and biological relevance of PIG-A mutations in paroxysmal nocturnal hemoglobinuria, aplastic anemia and healthy controls [review] PMID: 16923549
    19. In patients with paroxysmal nocturnal hemoglobinuria, it is very unlikely that more than one PIG-A mutated clone arises at the level of the hematopoietic stem cells. PMID: 17823237
    20. PIG-A mutations contribute to clonal expansion in PNH by conferring a survival advantage to hematopoietic progenitors under proapoptotic stresses. PMID: 19013003
    21. Paroxysmal nocturnal hemoglobinuria is an acquired hemolytic anemia caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked PIGA gene. PMID: 19074066

    显示更多

    收起更多

  • 相关疾病：
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1); Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Single-pass membrane protein.
  • 蛋白家族：
    Glycosyltransferase group 1 family, Glycosyltransferase 4 subfamily
  • 数据库链接：

    HGNC: 8957

    OMIM: 300818

    KEGG: hsa:5277

    STRING: 9606.ENSP00000369820

    UniGene: Hs.137154