PIGA Antibody

Code CSB-PA017965LA01HU
Size US$166
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  • Immunohistochemistry of paraffin-embedded human placenta tissue using CSB-PA017965LA01HU at dilution of 1:100

  • Immunohistochemistry of paraffin-embedded human adrenal gland tissue using CSB-PA017965LA01HU at dilution of 1:100

  • Immunofluorescent analysis of Hela cells using CSB-PA017965LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)

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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) PIGA Polyclonal antibody
Uniprot No.
Target Names
PIGA
Alternative Names
PIGA; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GlcNAc-PI synthesis protein; Phosphatidylinositol-glycan biosynthesis class A protein; PIG-A
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit A protein (443-484AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated

The PIGA Antibody (Product code: CSB-PA017965LA01HU) is Non-conjugated. For PIGA Antibody with conjugates, please check the following table.

Available Conjugates
Conjugate Product Code Product Name Application
HRP CSB-PA017965LB01HU PIGA Antibody, HRP conjugated ELISA
FITC CSB-PA017965LC01HU PIGA Antibody, FITC conjugated
Biotin CSB-PA017965LD01HU PIGA Antibody, Biotin conjugated ELISA
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA, IHC, IF
Recommended Dilution
Application Recommended Dilution
IHC 1:20-1:200
IF 1:50-1:200
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
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.
Gene References into Functions
  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

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Involvement in disease
Paroxysmal nocturnal hemoglobinuria 1 (PNH1); Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)
Subcellular Location
Endoplasmic reticulum membrane; Single-pass membrane protein.
Protein Families
Glycosyltransferase group 1 family, Glycosyltransferase 4 subfamily
Database Links

HGNC: 8957

OMIM: 300818

KEGG: hsa:5277

STRING: 9606.ENSP00000369820

UniGene: Hs.137154

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