PIGA Antibody

說明書

中文名稱：

PIGA兔多克隆抗體
貨號：

CSB-PA017965GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

P37287
基因名：

PIGA
別名：

PIGA; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GlcNAc-PI synthesis protein; Phosphatidylinositol-glycan biosynthesis class A protein; PIG-A
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human PIGA
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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.
基因功能參考文獻：
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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相關疾病：

Paroxysmal nocturnal hemoglobinuria 1 (PNH1); Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)
亞細胞定位：

Endoplasmic reticulum membrane; Single-pass membrane protein.
蛋白家族：

Glycosyltransferase group 1 family, Glycosyltransferase 4 subfamily
數據庫鏈接：

HGNC: 8957

OMIM: 300818

KEGG: hsa:5277

STRING: 9606.ENSP00000369820

UniGene: Hs.137154

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