PORCN Antibody, Biotin conjugated
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中文名稱：PORCN兔多克隆抗體, Biotin偶聯
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貨號：CSB-PA887958LD01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) PORCN Polyclonal antibody
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Uniprot No.：
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基因名：
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別名：DHOF antibody; FODH antibody; MG61 antibody; MGC29687 antibody; por antibody; PORC antibody; PORCN antibody; PORCN_HUMAN antibody; PPN antibody; Probable protein-cysteine N-palmitoyltransferase porcupine antibody; Protein MG61 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Protein-serine O-palmitoleoyltransferase porcupine protein (269-332AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Biotin
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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 -
產品提供形式：Liquid
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應用范圍：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.
產品評價
相關產品
靶點詳情
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功能：Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.
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基因功能參考文獻：
- Case Report: mosaicism for PORCN mutations in focal dermal hypoplasia (Goltz Syndrome). PMID: 28293688
- Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A) PMID: 28655768
- Inhibition of Wnt signaling by PORCN inhibition holds promise as differentiation therapy in genetically defined human cancers PMID: 26257057
- porcupine-mediated production of Wnts is context dependent and is not required for all Wnts production, suggesting that alternative mechanisms exist for Wnts production. PMID: 24647048
- We describe the first case of non-mosaic males affected with syndromic microphthalmia because of a non-synonymous variant in the PORCN gene. PMID: 25026905
- the Wnt amino acid residues required for recognition and palmitoylation by PORCN PMID: 25451226
- We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN. PMID: 24698628
- a novel variant in the PORCN gene (c.1250T>C:p.F417S) in the focal dermal hypoplasia with spinal anomaly PMID: 23696273
- We report a typical focal dermal hypoplasia (FDH) patient with a recurrent PORCN mutation, which was previously identified, and a second female, with an almost unilateral FDH and a novel postzygotic PORCN mutation. PMID: 23399492
- To the best of our knowledge, this is the second case report that reveals a mutation of the PORCN gene in a patient with almost unilateral focal dermal hypoplasia. PMID: 22735390
- PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion PMID: 22509316
- review of the published mutations in the PORCN gene and report on 7 new mutations identified in Goltz-Gorlin syndrome patients PMID: 21472892
- 12 novel PORCN mutations and 6 previously reported mutations were found in 53 unrelated focal dermal hypoplasia patients. PMID: 20854095
- Porcupine might contribute to non-small cell lung carcinoma development by ranscriptional activation of cancer-related genes such as s100P. PMID: 20198348
- Three de novo mutations were identified in PORCN gene in patients with focal dermal hypoplasia. PMID: 19863546
- Sequence deletions and point mutations cause focal dermal hypoplasia. PMID: 17546030
- PORCN, encoding a putative O-acyltransferase potentially crucial for cellular export of Wnt signaling proteins, is the gene mutated in focal dermal hypoplasia. PMID: 17546031
- Overexpression of PORCN is associated with lung cancer PMID: 18193088
- 3 novel mutations in PORCN, c.373+1G>A, c.737_738insA & c.1094G>A (p.R365Q), were identified in focal dermal hypoplasia patients(FDH); study shows PORCN is gene responsible for FDH in different populations & extends number of confirmed mutations to 26 PMID: 18325042
- defective PORCN does not lead to selective growth disadvantage PMID: 19277062
- Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. PMID: 19309688
- Mutations within the PORCN gene are associated with Goltz-Gorlin syndrome. PMID: 19586929
- Focal dermal hypoplasia illustrates the phenotypic consequences of defective modulation of Wnt signaling in utero and highlights the important roles of PORCN and Wnt signaling pathways in embryogenesis. PMID: 19681149
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相關疾病：Focal dermal hypoplasia (FODH)
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亞細胞定位：Endoplasmic reticulum membrane; Multi-pass membrane protein.
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蛋白家族：Membrane-bound acyltransferase family, Porcupine subfamily
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組織特異性：Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum, hippocampus, spinal cord, kidney, liver, lung, s
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