EVC Antibody, Biotin conjugated
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中文名稱:EVC兔多克隆抗體, Biotin偶聯(lián)
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貨號:CSB-PA007862LD01HU
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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) EVC Polyclonal antibody
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Uniprot No.:
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基因名:
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別名:EVCEllis-van Creveld syndrome protein antibody; DWF-1 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 Ellis-van Creveld syndrome protein (493-602AA)
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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(chǎn)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.
相關產(chǎn)品
靶點詳情
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功能:Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.
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基因功能參考文獻:
- the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. PMID: 29321360
- The molecular mechanism underlying the development of ventricular septal defect induced by the EVC c.343C>G mutation may be due to a reduction in the anti-apoptotic and proliferative abilities of cardiomyocytes via downregulation of Hh pathway activity. PMID: 29257216
- Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. PMID: 29229899
- we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. PMID: 26748586
- sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. PMID: 26580685
- Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. PMID: 26621368
- The epigenetically deregulated EVC appears to play an important role for hedgehog activation. PMID: 24996003
- Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. PMID: 21199751
- We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene PMID: 19744229
- STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. PMID: 20087401
- The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. PMID: 19810119
- CRMP1 and EVC genes are located near WFS1, the Wolfram syndrome type 1 gene. PMID: 15492864
- In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected PMID: 18454448
- EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical Ellis van Creveld syndrome PMID: 18947413
- EVC and LBN play roles in cardiovascular development and disease. PMID: 19251731
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相關疾?。?/div>Ellis-van Creveld syndrome (EVC); Acrofacial dysostosis, Weyers type (WAD)亞細胞定位:Cell membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane.組織特異性:Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.數(shù)據(jù)庫鏈接:
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