验证数据展示
产品信息
55367-1-PBS targets EVC2 in WB, IHC, Indirect ELISA applications and shows reactivity with human, mouse samples.
经测试应用 | WB, IHC, Indirect ELISA Application Description |
经测试反应性 | human, mouse |
免疫原 | Peptide 种属同源性预测 |
宿主/亚型 | Rabbit / IgG |
抗体类别 | Polyclonal |
产品类型 | Antibody |
全称 | Ellis van Creveld syndrome 2 |
别名 | |
计算分子量 | 148 kDa |
观测分子量 | 140 kDa |
GenBank蛋白编号 | NM_147127 |
基因名称 | EVC2 |
Gene ID (NCBI) | 132884 |
偶联类型 | Unconjugated |
形式 | Liquid |
纯化方式 | Antigen affinity purification |
UNIPROT ID | Q86UK5 |
储存缓冲液 | PBS only, pH 7.3. |
储存条件 | Store at -80°C. The product is shipped with ice packs. Upon receipt, store it immediately at -80°C |
背景介绍
EVC2 (also known as LIMBIN) is close proximity in divergent orientation to EVC and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld (EvC) syndrome. Typical symptoms of EvC include shorter limbs and ribs, postaxial polydactyly, dysplastic nails, and cardiovascular defects (PMID: 28081373). Additionally, EvC syndrome has been characterized as a ciliopathy because the EVC and EVC2 proteins are intracellularly localized at the bottom of the primary cilium, where they form a heterotrimeric protein complex with SMO and transduce Hedgehog(Hh) signaling (PMID: 30410447). EVC2 is expressed in the heart, placenta, lung, liver, skeletal muscle, kidney, and pancreas. EVC2 has 3 isoforms with the molecular mass of 140-148 kDa.