CRELD1 Antibody
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货号:CSB-PA255746
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规格:¥1100
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图片:
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The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA255746(CRELD1 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
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The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA255746(CRELD1 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
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Gel: 10%SDS-PAGE, Lysate: 40 μg, Lane 1-2: Mouse bladder tissue, 293T cells, Primary antibody: CSB-PA255746(CRELD1 Antibody) at dilution 1/930, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 5 minutes
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其他:
产品详情
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Uniprot No.:Q96HD1
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基因名:CRELD1
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别名:CRELD1; CIRRIN; UNQ188/PRO214; Protein disulfide isomerase CRELD1; Cysteine-rich with EGF-like domain protein 1
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宿主:Rabbit
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反应种属:Human,Mouse,Rat
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免疫原:Synthetic peptide of Human CRELD1
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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抗体亚型:IgG
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纯化方式:Antigen affinity purification
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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产品提供形式:Liquid
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应用范围:ELISA,WB,IHC
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推荐稀释比:
Application Recommended Dilution ELISA 1:2000-1:5000 WB 1:500-1:2000 IHC 1:50-1:200 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期: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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靶点详情
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功能:Protein disulfide isomerase. Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane.
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基因功能参考文献:
- The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients. PMID: 29054759
- Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. PMID: 25524324
- Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect. PMID: 24927998
- we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals. PMID: 22987595
- study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype PMID: 22740159
- SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India. PMID: 21413875
- CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation PMID: 21080147
- CRELD1 could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it. PMID: 19521671
- Missense mutations in this protein are associated with cardiac atrioventricular septal defects. PMID: 12632326
- Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects PMID: 18076106
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相关疾病:Atrioventricular septal defect 2 (AVSD2)
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亚细胞定位:Membrane; Multi-pass membrane protein.
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蛋白家族:CRELD family
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组织特异性:Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
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数据库链接:
HGNC: 14630
OMIM: 606217
KEGG: hsa:78987
UniGene: Hs.9383
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