PIGN Antibody, HRP conjugated
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中文名稱：PIGN兔多克隆抗體, HRP偶聯(lián)
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貨號：CSB-PA017977LB01HU
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規(guī)格：￥880
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其他：
產(chǎn)品詳情
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產(chǎn)品名稱：Rabbit anti-Homo sapiens (Human) PIGN Polyclonal antibody
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Uniprot No.：
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基因名：PIGN
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別名：PIGN antibody; MCD4 antibody; GPI ethanolamine phosphate transferase 1 antibody; EC 2.-.-.- antibody; MCD4 homolog antibody; Phosphatidylinositol-glycan biosynthesis class N protein antibody; PIG-N antibody
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宿主：Rabbit
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反應(yīng)種屬：Human
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免疫原：Recombinant Human GPI ethanolamine phosphate transferase 1 protein (27-181AA)
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免疫原種屬：Homo sapiens (Human)
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標(biāo)記方式：HRP
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能：Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor. May act as suppressor of replication stress and chromosome missegregation.
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基因功能參考文獻(xiàn)：
- Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands. PMID: 29330547
- PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC. PMID: 28187452
- Study reports compound heterozygous mutations in PIGN in two siblings with Fryns syndrome, and a homozygous mutation in an unrelated affected individual. However, two further individuals with Fryns syndrome did not carry mutations in this gene, suggesting genetic heterogeneity in this syndrome. PMID: 27038415
- Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels. PMID: 28327575
- PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells. PMID: 27980068
- PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy. PMID: 26394714
- The mutated PIGN caused a significant decrease of the overall glycosylphoshatidylinositol-anchored proteins and CD24 expression which is sufficient to cause severe phenotypic expression. PMID: 26364997
- Findings confirm that developmental delay, hypotonia, and epilepsy combined with congenital anomalies are common phenotypes of PIGN mutations and add progressive cerebellar atrophy to this clinical spectrum. PMID: 24253414
- PIGN encodes phosphatidylinositol-glycan biosynthesis class N protein. PMID: 22876578
- Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. PMID: 21493957
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相關(guān)疾病：Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
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亞細(xì)胞定位：Endoplasmic reticulum membrane; Multi-pass membrane protein.
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蛋白家族：PIGG/PIGN/PIGO family, PIGN subfamily
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數(shù)據(jù)庫鏈接：
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