EVC2 Antibody
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中文名稱：EVC2兔多克隆抗體
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貨號(hào)：CSB-PA921718
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規(guī)格：￥1100
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圖片：
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The image on the left is immunohistochemistry of paraffin-embedded Human cervical cancer tissue using CSB-PA921718(EVC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200) -
The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA921718(EVC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：
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別名：EVC2 antibody; LBN antibody; Limbin antibody; Ellis-van Creveld syndrome protein 2 antibody; EVC2 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：Synthetic peptide of Human EVC2
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免疫原種屬：Homo sapiens (Human)
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標(biāo)記方式：Non-conjugated
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抗體亞型：IgG
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純化方式：Antigen affinity purification
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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：-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,IHC
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推薦稀釋比：
Application Recommended Dilution ELISA 1:2000-1:5000 IHC 1:50-1:200 -
Protocols：
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儲(chǔ)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(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能：Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
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基因功能參考文獻(xiàn)：
- he 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
- 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
- we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel. PMID: 23220543
- Identification of a novel genotype in EvC will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling PMID: 23026208
- Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. PMID: 21533779
- In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father PMID: 21815252
- 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
- STK32b, EVC and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios. PMID: 20087401
- A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates. PMID: 20184732
- 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
- EVC2 is mutated in an Ashkenazi individual with Ellis-van Creveld syndrome PMID: 12468274
- Mutations in this gene cause Ellis-van Creveld syndrome. PMID: 12571802
- Data provide conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions. PMID: 16404586
- EVC and LBN play roles in cardiovascular development and disease. PMID: 19251731
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相關(guān)疾病：Ellis-van Creveld syndrome (EVC); Acrofacial dysostosis, Weyers type (WAD)
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亞細(xì)胞定位：Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.
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組織特異性：Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
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數(shù)據(jù)庫(kù)鏈接：
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