- ￥880
- Bioss
- bs-11282P
- 2025年10月16日
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- 详细信息
- 技术资料
- 规格：
500ug
| 产品编号 | bs-11282P |
| 英文名称 | EVC Antibody Blocking Peptide |
| 中文名称 | 软骨外胚层发育不良相关蛋白封闭多肽 |
| 英文别名 | Ellis van Creveld syndrome DWF 1; DWF1; Ellis van Creveld syndrome protein; Ellis-van Creveld syndrome; EVC; EVC1; EVC 1; EVC-1; EVCL; MGC105107; EVC_HUMAN. |
| 纯化方法 | HPLC |
| 研究领域 | Developmental Biology > Organogenesis > Skeletal development > Bone Developmental Biology > Organogenesis > Skeletal development > Muscle |
| 亚基 | Interacts with EVC2 (By similarity). |
| 亚细胞定位 | Membrane; Single pass membrane protein |
| 组织特异性 | Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung. |
| 功能 | Ellis van Creveld syndrome is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in this protein are a cause of Ellis van Creveld syndrome (EVC). |
| 保存条件 | Shipped at 4℃. Stored at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事项 | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| 背景资料 | EVC is an autosomal skeletal dysplasia caused by mutations in the EVC and EVC2 genes. Found in developing ribs, heart, kidney and lung, the EVC gene is responsible for normal development of the face, limbs, teeth and nails. The protein expressed by the EVC gene is an intracellular component of the hedgehog signal pathway that contains a leucine zipper and transmembrane domain. Defects in the EVC gene can lead to short-limb dwarfism, ectodermal dysplasia and cardiac anomalies such as irregular atrioventricular septum development. Additionally, the EVC gene has been implicated in Weyers acrodental dysostosis, an autosomal dominant disease characterized by facial abnormalities and limb defects. |
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EVC Antibody Blocking Peptide(bs-11282P)-500ug
￥880
