Anti-EVC1软骨外胚层发育不良相关蛋白抗体

本公司经销EVC1，软骨外胚层发育不良相关蛋白抗体，克隆类型为polyclonal，宿主来源是Rabbit，EVC1软骨外胚层发育不良相关蛋白抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！

货号：BY-11282R
英文名称：Anti-EVC1
中文名称：软骨外胚层发育不良相关蛋白抗体
其他名称：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.
抗体来源：Rabbit
克隆类型：polyclonal
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
产品介绍：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