Anti-EVC1软骨外胚层发育不良相关蛋白抗体

本公司提供科研EVC1软骨外胚层发育不良相关蛋白抗体，抗体质量可靠，订购EVC1软骨外胚层发育不良相关蛋白抗体请联系在线客服或者销售人员。
抗体参数如下>>>>
中文名称：软骨外胚层发育不良相关蛋白抗体
英文名称：Anti-EVC1
货号：bs-11282R
抗体来源：兔
克隆类型：多克隆
蛋白分子量：predicted molecular weight: 112kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat
测试应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500
（石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
产品背景介绍：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.Function : 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).Subcellular Location : Membrane; Single pass membrane protein