B3GALTL Antibody
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中文名稱：B3GALTL兔多克隆抗體
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貨號：CSB-PA786105
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規格：￥2024
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圖片：
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Western blot analysis of extracts from HepG2 cells, Jurkat cells, MCF-7 cells and HUVEC cells, using B3GALTL antibody. -
Immunohistochemistry analysis of paraffin-embedded human liver carcinoma tissue using B3GALTL antibody.
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) B3GLCT Polyclonal antibody
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Uniprot No.：
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基因名：B3GLCT
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宿主：Rabbit
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反應種屬：Human
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免疫原：Synthesized peptide derived from C-terminal of Human B3GALTL.
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免疫原種屬：Homo sapiens (Human)
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克隆類型：Polyclonal
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:3000 IHC 1:50-1:100 -
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.
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靶點詳情
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功能：O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.
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基因功能參考文獻：
- Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL). PMID: 27049305
- POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. PMID: 25544610
- Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. PMID: 23889335
- a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome PMID: 23954224
- A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene PMID: 22759511
- Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL. PMID: 21671750
- The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition. PMID: 21067481
- Novel B3GALTL mutation in Peters-plus Syndrome PMID: 19796186
- B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs PMID: 12943678
- We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR domain. PMID: 16899492
- Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome. PMID: 16909395
- Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.( PMID: 18199743
- two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome PMID: 18798333
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相關疾?。?/div>Peters-plus syndrome (PPLS)亞細胞定位：Endoplasmic reticulum membrane; Single-pass type II membrane protein.蛋白家族：Glycosyltransferase 31 family組織特異性：Widely expressed, with highest levels in testis and uterus.數據庫鏈接：
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